Ophthalmology – Neonatal Conjunctivitis

Basics

Description

Neonatal conjunctivitis (ophthalmia neonatorum) is conjunctival inflammation occurring during the first 4 weeks of life.

It may be:

• Infectious
• Chemical/toxic
• Iatrogenic

Because some causes—particularly gonococcal and herpes simplex infection—can rapidly threaten the cornea, vision, or life, neonatal conjunctivitis requires prompt etiologic assessment.

Major Causes

Important infectious causes include:

• Neisseria gonorrhoeae
• Chlamydia trachomatis
• Herpes simplex virus (HSV)
• Staphylococcus aureus, including MRSA
• Streptococcus pneumoniae
• Gram-negative enteric organisms
• Other bacterial pathogens

Noninfectious causes include:

• Chemical conjunctivitis
• Toxic reaction to topical medications

Epidemiology

The incidence varies markedly according to:

• Maternal infection prevalence
• Quality of prenatal care
• STI screening programs
• Availability of neonatal prophylaxis

Gonococcal ophthalmia has become uncommon in countries with effective maternal screening and neonatal prophylaxis but remains a major preventable cause of severe ocular morbidity in some settings.

Risk Factors

Important risk factors include:

• Maternal sexually transmitted infection
• Inadequate prenatal care
• Premature rupture of membranes
• Prolonged rupture of membranes
• Low birth weight
• Prematurity
• Failure to receive indicated ocular prophylaxis
• Contaminated ophthalmic instruments
• Respiratory support devices
• Poor infection-control practices

Irritating topical substances or inappropriate traditional remedies may also cause conjunctival inflammation or secondary infection.

Genetics

There is no recognized genetic contribution to ordinary neonatal conjunctivitis.

Prevention

The most important preventive measure is appropriate prenatal screening and treatment of maternal infection, especially:

• Gonorrhea
• Chlamydia
• Syphilis
• HIV
• Genital herpes when clinically relevant

Strict hygiene and sterile technique should be used in neonatal care.

Ocular Prophylaxis

Where recommended by local public-health policy, neonatal ocular prophylaxis is directed primarily against gonococcal ophthalmia.

In the United States, the CDC recommends a single application of erythromycin 0.5% ophthalmic ointment to both eyes at birth. This prophylaxis does not reliably prevent chlamydial conjunctivitis, so prenatal maternal screening remains essential. 

Pathophysiology

Neonatal conjunctivitis usually results from inoculation of the conjunctiva through:

• Passage through an infected birth canal
• Ascending infection after ruptured membranes
• Postnatal contact
• Contaminated equipment or caregivers

Neonates have relatively immature immune defenses, which can allow rapid progression of infection.

Timing of Presentation

The timing of onset can provide an important diagnostic clue.

Chemical Conjunctivitis

Usually:

• Within the first 24 hours

Gonococcal Conjunctivitis

Usually:

• Approximately 2–5 days after birth

Chlamydial Conjunctivitis

Usually:

• Approximately 5–14 days after birth

Herpes Simplex Conjunctivitis

Often develops:

• During the first 1–2 weeks of life

There is overlap, so timing alone must not determine treatment.

Gonococcal Ophthalmia Neonatorum

Neisseria gonorrhoeae is the most immediately vision-threatening bacterial cause.

Typical findings include:

• Rapid onset
• Marked eyelid edema
• Severe conjunctival injection
• Chemosis
• Copious hyperpurulent discharge

The organism can penetrate intact corneal epithelium.

Gonococcal Corneal Disease

Serious complications include:

• Keratitis
• Corneal ulceration
• Corneal melting
• Corneal perforation
• Endophthalmitis
• Permanent blindness

Therefore, suspected gonococcal conjunctivitis is an ophthalmic and pediatric emergency.

Chlamydial Conjunctivitis

Chlamydia trachomatis is another major cause of neonatal conjunctivitis.

Typical manifestations include:

• Mucopurulent discharge
• Eyelid edema
• Conjunctival hyperemia
• Chemosis

Because newborns lack mature conjunctival lymphoid tissue, the classic follicular response seen in adults may be absent.

Chlamydial Systemic Association

Neonatal chlamydial conjunctivitis may be associated with:

• Nasopharyngeal infection
• Genital infection
• Rectal colonization
• Chlamydial pneumonitis

Therefore, topical therapy alone is inadequate.

Herpes Simplex Virus

Neonatal HSV infection may involve:

• Conjunctiva
• Cornea
• Skin
• Mouth
• Central nervous system
• Multiple visceral organs

Ocular HSV should always raise concern for systemic neonatal herpes.

HSV Ocular Findings

Possible findings include:

• Watery or mucoid discharge
• Conjunctivitis
• Vesicular eyelid or skin lesions
• Dendritic epithelial keratitis
• Geographic epithelial ulcer
• Stromal keratitis

Absence of skin vesicles does not exclude neonatal herpes.

Chemical Conjunctivitis

Chemical conjunctivitis may follow exposure to irritating prophylactic or topical agents.

Typical features include:

• Conjunctival injection
• Chemosis
• Mucous discharge

It is generally:

• Early in onset
• Bilateral
• Self-limited

History

Maternal and Birth History

Ask about:

• Quality of prenatal care
• Maternal gonorrhea or chlamydia
• Genital herpes
• Other sexually transmitted infections
• Maternal genital discharge
• Partner STI history
• Premature rupture of membranes
• Duration of membrane rupture
• Mode of delivery
• Perinatal antibiotic treatment

Infant History

Ask about:

• Age at symptom onset
• Low birth weight
• Prematurity
• Fever
• Poor feeding
• Lethargy
• Respiratory symptoms
• Skin vesicles
• Ocular prophylaxis received
• Intensive-care procedures
• Respiratory support
• Previous eye examination or instrumentation

Physical Examination

A complete systemic and ophthalmic examination is required.

Assess:

• General appearance
• Temperature
• Feeding
• Respiratory status
• Skin
• Oral cavity
• Neurologic status

Eyelid Findings

Look for:

• Edema
• Erythema
• Vesicles
• Skin erosions
• Preseptal cellulitis

Marked tense lid edema with copious purulent discharge raises particular concern for gonococcus.

Conjunctiva

Assess for:

• Injection
• Chemosis
• Membranes or pseudomembranes
• Character of discharge

Important Pearl

Discharge without significant conjunctival injection should raise suspicion for congenital nasolacrimal duct obstruction rather than primary conjunctivitis.

Character of Discharge

Gonococcal

Typically:

Profuse, thick, hyperpurulent discharge

Chlamydial

Typically:

• Mucopurulent discharge

HSV

May produce:

• Watery
• Serous
• Mucoid discharge

The discharge pattern alone is not sufficiently reliable to establish the diagnosis.

Corneal Examination

The cornea must be examined carefully in every neonate with significant conjunctivitis.

Look for:

• Epithelial defect
• Infiltrate
• Ulcer
• Corneal thinning
• Perforation

Gonococcal Cornea

Possible findings include:

• Peripheral or central ulcer
• Rapid stromal thinning
• Perforation

Urgent corneal specialist involvement may be required.

HSV Cornea

Possible findings include:

• Dendritic epithelial lesion
• Geographic epithelial defect
• Stromal infiltrate

Topical corticosteroids should not be started empirically in suspected epithelial HSV disease.

Diagnostic Testing

Significant neonatal conjunctivitis should undergo microbiologic investigation rather than being treated empirically with topical drops alone.

Gram Stain

An urgent conjunctival Gram stain is particularly useful when gonorrhea is suspected.

Classic finding:

Intracellular gram-negative diplococci

A suspicious clinical presentation warrants immediate systemic treatment without waiting for final culture results.

Bacterial Culture

Conjunctival specimens should be obtained for:

• Gram stain
• Culture
• Antimicrobial susceptibility testing

Appropriate media must be used when gonococcus is suspected.

Chlamydial Testing

Conjunctival samples should contain epithelial cells, not simply surface discharge.

Testing may include:

• Culture
• Direct fluorescent antibody testing
• Validated nucleic-acid amplification testing depending on local laboratory capability

A neonate evaluated for chlamydial ophthalmia should also be evaluated for gonorrhea. 

HSV Testing

When HSV is suspected, testing may include:

• HSV PCR from ocular or mucosal specimens
• Surface cultures/PCR
• Blood PCR
• CSF evaluation when indicated

Evaluation should be coordinated urgently with pediatrics or pediatric infectious disease.

Additional STI Evaluation

When neonatal gonorrhea or chlamydia is identified, maternal infection and other perinatal infections must be considered.

Depending on the clinical situation, evaluation may include:

• Syphilis
• HIV
• Other sexually transmitted infections

The mother and her sexual partner(s) require evaluation and treatment.

Lumbar Puncture

Lumbar puncture should be considered when:

• HSV infection is suspected
• Meningitis is suspected
• The infant is systemically unwell
• Disseminated infection is possible

Neuroimaging

Brain MRI or other imaging may be indicated when there is concern for:

• HSV encephalitis
• Neurologic abnormalities
• Intracranial complications

Orbital imaging may be required if:

• Orbital cellulitis is suspected
• There is proptosis
• Ocular motility is impaired
• Significant periocular swelling is present

Differential Diagnosis

Important differential diagnoses include:

• Congenital nasolacrimal duct obstruction
• Dacryocystitis
• Neonatal blepharitis
• Blepharoconjunctivitis
• Congenital glaucoma
• Keratitis
• Corneal foreign body or trauma
• Uveitis secondary to congenital infection
• Rare infiltrative ocular disorders

Important Differential – Nasolacrimal Duct Obstruction

NLDO usually causes:

• Epiphora
• Mucous discharge
• Matted lashes

but typically:

Little or no conjunctival injection

Important Differential – Congenital Glaucoma

Congenital glaucoma typically presents with:

• Epiphora
• Photophobia
• Blepharospasm
• Corneal enlargement
• Corneal haze

This requires urgent ophthalmologic assessment.

Treatment

Treatment depends on the organism.

Because neonatal infection can progress rapidly, significant conjunctivitis should be managed jointly with:

• Ophthalmology
• Pediatrics
• Pediatric infectious disease when appropriate

Gonococcal Conjunctivitis

Emergency Treatment

Current CDC therapy for uncomplicated gonococcal ophthalmia neonatorum is:

Ceftriaxone 25–50 mg/kg IV or IM once, maximum 250 mg.

Cefotaxime can be used in neonates in whom ceftriaxone is unsuitable, such as certain situations involving hyperbilirubinemia or IV calcium exposure. Systemic treatment—not topical therapy alone—is essential. 

The infant should also be assessed for disseminated gonococcal infection, including:

• Sepsis
• Arthritis
• Meningitis

Ocular Irrigation in Gonococcal Disease

Frequent sterile saline irrigation may be useful to remove large amounts of purulent material.

This is adjunctive and never substitutes for systemic antibiotics.

Chlamydial Conjunctivitis

Systemic therapy is mandatory because infection can also involve the respiratory and nasopharyngeal tracts.

The CDC recommended regimen is:

Erythromycin base or ethylsuccinate 50 mg/kg/day orally in 4 divided doses for 14 days. 

A short-course azithromycin regimen may be used in selected circumstances, although evidence in neonates is more limited. 

Chlamydia – Important Medication Warning

Oral erythromycin and azithromycin in infants younger than approximately 6 weeks have been associated with:

Infantile hypertrophic pyloric stenosis

Parents should be advised to monitor for:

• Forceful vomiting
• Feeding intolerance
• Progressive vomiting

despite the need to treat the infection appropriately. 

Topical Therapy in Chlamydia

Topical antibiotics alone are inadequate because chlamydia is not limited to the conjunctiva.

When appropriate systemic therapy is given, routine topical treatment is generally unnecessary. 

Herpes Simplex Virus

Neonatal HSV requires urgent systemic acyclovir.

Standard systemic therapy is:

Acyclovir 20 mg/kg IV every 8 hours

with duration depending on disease extent:

• Approximately 14 days for disease limited to skin, eyes, and mouth
• 21 days for CNS or disseminated disease 

Ocular HSV should also be managed with a pediatric ophthalmologist, with topical antiviral treatment when indicated.

HSV and Steroids

Topical corticosteroids should not be used empirically in neonatal epithelial HSV keratitis.

Any steroid treatment for HSV-associated stromal disease requires specialist supervision and concurrent antiviral coverage.

Other Bacterial Conjunctivitis

Treatment should be guided by:

• Gram stain
• Culture
• Sensitivities
• Clinical severity

Coverage should reflect local resistance patterns, including MRSA where appropriate.

Systemically ill neonates require systemic evaluation and treatment.

Chemical Conjunctivitis

Management consists primarily of:

• Discontinuing the offending agent
• Gentle ocular cleansing or irrigation
• Supportive care

Most cases are self-limited.

Persistent or worsening inflammation should prompt reconsideration of an infectious cause.

Corneal Involvement

Urgent corneal or pediatric ophthalmology consultation is required for:

• Corneal ulcer
• Stromal infiltrate
• Progressive thinning
• Impending perforation
• Actual perforation
• Persistent HSV keratitis

Hospital Admission

Admission should be strongly considered for neonates with:

• Suspected gonococcal disease
• Suspected neonatal HSV
• Severe purulent conjunctivitis
• Corneal involvement
• Dacryocystitis with systemic illness
• Preseptal or orbital cellulitis
• Fever or sepsis
• Poor feeding
• Neurologic symptoms

A systemically ill neonate should be managed as a medical emergency.

Infection-Control Precautions

Appropriate contact and infection-control precautions should be used according to the suspected organism and hospital protocol.

Maternal and Partner Management

If gonorrhea or chlamydia is identified:

• The mother requires evaluation and treatment.
• Sexual partner(s) require evaluation and treatment.
• Other STIs should be considered.

This reduces maternal complications and future transmission.

Follow-Up

Close follow-up is required until:

• Discharge resolves
• Conjunctival inflammation clears
• Corneal integrity is confirmed
• Systemic infection has been excluded or treated

Chlamydial disease requires follow-up because treatment failure can occur.

Long-Term Ophthalmic Follow-Up

If corneal scarring develops, the infant should be monitored for:

• Refractive error
• Irregular astigmatism
• Anisometropia
• Deprivation amblyopia

Early amblyopia management may be essential.

Patient Education

Parents should understand that neonatal conjunctivitis can occasionally represent a serious systemic infection.

Urgent reassessment is needed for:

• Increased eyelid swelling
• Copious purulent discharge
• Corneal clouding
• Poor feeding
• Fever
• Lethargy
• Skin vesicles
• Seizures
• Respiratory symptoms

Unsterile traditional remedies, including substances such as urine, should not be placed into the infant’s eyes.

Prognosis

Uncomplicated Disease

Prognosis is generally:

Excellent

when the cause is identified and treated promptly.

Corneal Scarring

Visual prognosis becomes variable because of:

• Optical distortion
• Anisometropia
• Amblyopia

Gonococcal Corneal Perforation

Prognosis can be poor because of:

• Dense corneal scarring
• Endophthalmitis
• Structural ocular damage
• Severe amblyopia

Complications

Important complications include:

• Corneal ulceration
• Corneal perforation
• Corneal scarring
• Keratitis
• Endophthalmitis
• Amblyopia
• Preseptal cellulitis
• Orbital cellulitis
• Sepsis
• Chlamydial pneumonitis
• HSV encephalitis
• Disseminated neonatal HSV

Ophthalmology Pearls

• Neonatal conjunctivitis = conjunctivitis during the first 4 weeks of life.
• Timing is helpful: chemical first day, gonococcus approximately 2–5 days, chlamydia approximately 5–14 days, HSV commonly during the first 1–2 weeks.
• Copious hyperpurulent discharge = gonococcus until proven otherwise.
• Gonococcus can invade an intact cornea and rapidly cause ulceration and perforation.
• Chlamydial conjunctivitis requires systemic therapy because of associated nasopharyngeal and pulmonary infection.
• Neonatal HSV requires systemic IV acyclovir, even when ocular disease appears localized.
• Dendritic keratitis in a neonate should immediately raise concern for HSV.
• Discharge with little or no conjunctival injection favors nasolacrimal duct obstruction.
• Epiphora with photophobia, blepharospasm, and corneal haze suggests congenital glaucoma rather than simple conjunctivitis.
• Any systemically unwell neonate with conjunctivitis requires urgent pediatric evaluation.

Ophthalmology – Nasolacrimal Duct Obstruction in Children

Basics

Description

Congenital nasolacrimal duct obstruction (CNLDO) is the most common congenital abnormality of the lacrimal drainage system.

The nasolacrimal duct normally carries tears from the:

• Lacrimal sac
• Through the nasolacrimal duct
• Into the inferior meatus beneath the inferior turbinate

Congenital obstruction most commonly results from persistence of a thin membranous blockage at the distal duct near the:

Valve of Hasner

Typical manifestations are:

• Epiphora
• Increased tear lake
• Mucous or mucopurulent discharge
• Crusting of the eyelashes

Most cases resolve spontaneously during infancy.

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Epidemiology

Congenital NLDO is common.

Reported incidence is approximately:

6–20% of neonates

It is the most common congenital lacrimal drainage abnormality.

Approximately 90% of affected infants improve spontaneously by about 1 year of age.

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Risk Factors

Most cases occur in otherwise healthy children.

Risk may be increased in children with:

• Craniofacial malformations
• Down syndrome
• Oculonasal developmental abnormalities
• Cornelia de Lange syndrome
• Johanson-Blizzard syndrome
• Other syndromes involving craniofacial development

These patients may have more complex lacrimal drainage abnormalities in addition to simple distal NLDO.

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Genetics

No single causative genetic abnormality is responsible for most isolated cases.

However:

• Familial clustering has been reported.
• When NLDO occurs as part of a genetic syndrome, inheritance follows the pattern of that syndrome.
• Expression of the lacrimal anomaly may vary among affected family members.

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Pathophysiology

The nasolacrimal drainage system develops from a cord of surface ectoderm between the:

• Maxillary process
• Lateral nasal process

The epithelial cord later canalizes.

Failure of complete distal canalization produces a membranous obstruction, most commonly at the:

Valve of Hasner

This prevents normal drainage of tears into the nose.

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Etiology

The exact reason why distal canalization fails in individual infants is usually unknown.

Most cases are:

• Sporadic
• Congenital
• Isolated

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Commonly Associated Conditions

Associated conditions include:

• Down syndrome
• Craniofacial abnormalities
• Preauricular sinus
• Syndromes with oculofacial malformations

However, the majority of children with CNLDO have no systemic abnormality.

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Diagnosis

Diagnosis is usually clinical.

The typical infant presents with:

• Persistent tearing
• Mucous discharge
• Matted eyelashes
• Little or no conjunctival injection

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History

Parents commonly report:

• Constant or intermittent epiphora
• Mucous or mucopurulent discharge
• Eyelashes sticking together
• Symptoms worse on awakening
• Increased discharge during upper respiratory infections
• Increased tearing outdoors or in windy conditions

Symptoms may not be obvious immediately after birth because tear production is relatively low in the early neonatal period.

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Physical Examination

Typical findings include:

• Wet eyelid margin
• Matted eyelashes
• Increased tear lake
• Mucous discharge
• Minimal conjunctival redness

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Lacrimal Sac Compression

Gentle pressure over the lacrimal sac may cause:

• Mucous reflux
• Mucopurulent reflux
• Purulent material through the puncta

This strongly supports distal lacrimal drainage obstruction.

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Skin Changes

Longstanding overflow of tears may produce:

• Irritation
• Erythema
• Excoriation
• Chronic dermatitis of the lower eyelid and cheek

⸻

Important Examination Point

A complete examination of the:

• Eyelids
• Puncta
• Conjunctiva
• Cornea

should be performed to exclude other causes of tearing.

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Diagnostic Testing

Laboratory Testing

Routine laboratory testing is unnecessary.

If frank infection is present, cultures may occasionally be useful.

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Fluorescein Dye Disappearance Test

This is a simple and useful test for lacrimal drainage.

A drop of fluorescein is placed in the conjunctival sac.

After approximately 5 minutes:

• Normal drainage → little fluorescein remains
• Obstruction → persistent pooling of fluorescein

Comparison between the two eyes is particularly helpful in unilateral disease.

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Nasal Fluorescein Recovery

If fluorescein reaches the nasal cavity, this supports a patent drainage pathway.

Historically, fluorescein may be detected with:

• A cotton-tipped applicator beneath the inferior turbinate

This is not routinely necessary in straightforward cases.

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Imaging

Most children do not require imaging.

Consider CT or other imaging when there is:

• Craniofacial abnormality
• Facial trauma
• Atypical presentation
• Suspected mass
• Complex lacrimal anatomy

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Differential Diagnosis

Important differential diagnoses include:

• Dacryocele
• Congenital entropion
• Congenital ectropion
• Epiblepharon
• Trichiasis
• Infectious conjunctivitis
• Keratitis
• Uveitis
• Corneal foreign body
• Punctal agenesis or stenosis
• Canalicular abnormalities
• Lacrimal fistula
• Congenital glaucoma

⸻

Important Differential – Congenital Glaucoma

An infant with tearing should always be assessed for congenital glaucoma.

Features that favor glaucoma include:

• Photophobia
• Blepharospasm
• Corneal haze
• Enlarged corneal diameter
• Buphthalmos

These are not typical features of uncomplicated NLDO.

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Dacryocele

A dacryocele results from obstruction both:

• Distally at the nasolacrimal duct
• Proximally near the common canaliculus

It typically appears as a:

• Bluish
• Cystic
• Medial canthal swelling

A dacryocele may extend into the nose and cause respiratory difficulty in neonates, particularly if bilateral.

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Dacryocystitis

If an infant develops:

• Painful swelling
• Erythema
• Tenderness over the lacrimal sac
• Fever
• Purulent discharge

suspect:

Acute dacryocystitis

This requires urgent treatment.

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Treatment

First-Line – Lacrimal Sac Massage

The usual initial treatment is:

Crigler lacrimal sac massage

The goal is to increase hydrostatic pressure within the lacrimal sac and help rupture the distal membranous obstruction.

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Massage Technique

The caregiver places a finger over the lacrimal sac region just below the medial canthus.

Then:

• Apply firm pressure inward toward the lacrimal sac
• Sweep downward along the side of the nose

This compresses the lacrimal sac and increases pressure toward the distal obstruction.

Massage is commonly performed:

Several times per day

Parents should be shown the technique directly.

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Observation

Because spontaneous resolution is very common, observation with massage is appropriate for most infants during the first year of life.

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Antibiotics

Antibiotics are not routinely required for uncomplicated CNLDO.

They may be used when there is:

• Significant mucopurulent discharge
• Secondary bacterial conjunctivitis
• Dacryocystitis

Topical antibiotics may help control discharge, but they:

Do not open the obstruction itself.

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Referral

Referral to pediatric ophthalmology is appropriate when:

• Symptoms persist near or beyond 12 months
• Symptoms are severe
• Copious discharge persists
• There is recurrent infection
• Diagnosis is uncertain
• Craniofacial anomalies are present
• Massage fails to improve symptoms
• Dacryocystitis or cellulitis is suspected

Urgent referral is required for:

• Acute dacryocystitis
• Preseptal cellulitis
• Orbital cellulitis
• Infected dacryocele

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Surgical Treatment

When symptoms persist despite conservative management, intervention may be required.

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Probing

Nasolacrimal duct probing is the traditional first-line procedure for persistent congenital NLDO.

A probe is passed through:

• Punctum
• Canaliculus
• Lacrimal sac
• Nasolacrimal duct

to mechanically open the distal obstruction.

Success rates are generally high, especially in younger children with uncomplicated disease.

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Timing of Probing

Probing is commonly considered when:

• Obstruction persists beyond approximately 1 year
• Symptoms are troublesome
• There is recurrent infection

Earlier probing may be appropriate for:

• Severe disease
• Dacryocele
• Recurrent dacryocystitis
• Significant persistent discharge

Practice varies regarding office probing versus probing under general anesthesia.

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Balloon Catheter Dilation

Balloon dacryoplasty may be considered in:

• Persistent obstruction
• Older children
• Failed initial probing
• More complex stenosis

A balloon catheter is used to dilate the nasolacrimal duct.

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Silicone Intubation

Nasolacrimal intubation may be performed with:

• Monocanalicular tube
• Bicanalicular tube

The tube is left in place temporarily to maintain duct patency.

It is often used when:

• Initial probing fails
• The child is older
• There is complex obstruction
• Repeat procedures are required

⸻

Tube-Related Issues

Potential problems include:

• Premature extrusion
• Corneal irritation
• Granuloma
• Need for later removal

Some children require sedation or anesthesia for tube removal.

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Dacryocystorhinostomy

Dacryocystorhinostomy (DCR) is rarely required in children.

It is generally reserved for:

• Multiple failed probing/intubation procedures
• Complex congenital obstruction
• Severe structural abnormalities

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In-Patient Considerations

Most children are treated as outpatients.

Hospital admission may be required for:

• Acute dacryocystitis with systemic illness
• Preseptal cellulitis
• Orbital cellulitis
• Need for intravenous antibiotics

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Follow-Up

Children undergoing conservative treatment should be monitored until symptoms resolve.

Follow-up is especially important if there is:

• Persistent discharge
• Significant tearing
• Recurrent infection
• Skin breakdown

After complete resolution, routine follow-up specifically for NLDO is generally unnecessary.

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Patient Monitoring

Parents should monitor for:

• Increasing redness
• Medial canthal swelling
• Fever
• Purulent discharge
• Rapid eyelid swelling
• Reduced visual behavior

These may suggest infection or another diagnosis.

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Patient Education

Parents should understand that:

• CNLDO is common.
• Most cases resolve spontaneously.
• Massage is often sufficient.
• Antibiotic drops do not cure the obstruction.
• Surgery, when needed, is usually highly successful.

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Prognosis

The prognosis is excellent.

Most cases resolve:

• Spontaneously
• With lacrimal sac massage
• Or after a simple probing procedure

Children with significant craniofacial abnormalities may have:

• More complex obstruction
• Lower success rates
• Greater likelihood of requiring repeat procedures

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Complications

Potential complications include:

• Persistent epiphora
• Chronic mucopurulent discharge
• Dacryocystitis
• Preseptal cellulitis
• Orbital cellulitis
• Chronic skin irritation

Procedural complications are uncommon but may include:

• Mild epistaxis
• Corneal abrasion
• Creation of a false passage
• Tube extrusion
• Granuloma formation

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Ophthalmology Pearls

• Congenital NLDO is the most common lacrimal drainage abnormality in children.
• The usual obstruction is a persistent membrane at the Valve of Hasner.
• Classic presentation: tearing + mucous discharge + matted lashes + little conjunctival injection.
• Approximately 90% resolve spontaneously by about 1 year of age.
• Crigler massage is first-line treatment.
• Antibiotics are reserved for secondary infection; they do not correct the obstruction.
• Persistent symptoms beyond infancy may require probing.
• Failed probing may be followed by balloon dilation or silicone intubation.
• DCR is rarely required in children.
• A tearing infant with photophobia, blepharospasm, or corneal haze should be evaluated urgently for congenital glaucoma.
• Medial canthal swelling with erythema or fever suggests dacryocystitis or infected dacryocele and warrants urgent ophthalmic assessment.

Ophthalmology – Nasolacrimal Duct Obstruction

Basics

Description

Nasolacrimal duct obstruction (NLDO) is blockage of the lacrimal drainage pathway, preventing normal passage of tears from the lacrimal sac into the nasal cavity beneath the inferior turbinate.

It may cause:

• Epiphora
• Blurred vision from excessive tearing
• Mucous or purulent discharge
• Recurrent dacryocystitis

NLDO may be:

• Congenital
• Acquired

Acquired NLDO in adults can be divided into:

• Primary acquired nasolacrimal duct obstruction
• Secondary acquired nasolacrimal duct obstruction

Epidemiology

Acquired NLDO is more common in women.

A reported incidence is approximately:

20 per 100,000 persons

Female predominance is approximately:

3:1

One proposed explanation is that women may have a relatively narrower bony nasolacrimal canal.

Risk Factors

Important risk factors include:

• Chronic topical ophthalmic medications
• Long-term glaucoma drops
• Previous facial trauma
• Previous nasal or sinus surgery
• Recurrent dacryocystitis
• Recurrent conjunctivitis
• Systemic chemotherapy
• Previous radiation therapy

Chemotherapeutic agents associated with lacrimal drainage obstruction include:

• 5-fluorouracil
• Taxanes such as docetaxel

General Prevention

Many cases cannot be prevented.

Potential preventive measures include:

• Protective eyewear during high-risk activities to reduce facial trauma
• Appropriate management of chronic ocular surface inflammation
• Minimizing unnecessary long-term exposure to irritating topical medications
• Punctal occlusion techniques when appropriate to reduce systemic and nasolacrimal exposure to chronic eye drops

Pathophysiology

Primary Acquired NLDO

Primary acquired NLDO is thought to result from a chronic:

Fibro-inflammatory narrowing and scarring of the nasolacrimal duct

without a clearly identifiable initiating cause.

This progressive fibrosis eventually obstructs tear drainage.

Secondary Acquired NLDO

Secondary NLDO has an identifiable cause.

Major categories include:

• Infectious
• Inflammatory
• Neoplastic
• Traumatic
• Mechanical
• Iatrogenic

Infectious Causes

Reported infectious causes include:

• Bacterial infections
• Viral infections
• Fungal infections
• Parasitic infections

Chronic infection can promote:

• Mucosal inflammation
• Fibrosis
• Ductal obstruction

Inflammatory Causes

Associated inflammatory disorders include:

• Sarcoidosis
• Granulomatosis with polyangiitis
• Ocular cicatricial pemphigoid
• Scleroderma
• Chronic herpetic disease
• Radiation-related inflammation

Chronic topical medications may also induce cicatricial changes.

Neoplastic Causes

Tumors of the lacrimal sac or nasolacrimal drainage system are uncommon but important because they can masquerade as routine NLDO.

Reported tumors include:

• Squamous papilloma
• Squamous cell carcinoma
• Transitional-type carcinomas
• Adenocarcinoma
• Lymphoid tumors
• Melanoma
• Metastatic lesions

Trauma and Iatrogenic Causes

Obstruction may occur following:

• Facial fractures
• Canalicular laceration
• Previous probing
• Lacrimal surgery
• Nasal surgery
• Sinus surgery

Mechanical Causes

Mechanical obstruction may result from:

• Foreign body
• Dacryolith
• Canalicular concretions
• Mucous casts

Commonly Associated Conditions

Conditions associated with acquired NLDO include:

• Sarcoidosis
• Granulomatosis with polyangiitis
• Ocular cicatricial pemphigoid
• Scleroderma
• Herpetic conjunctivitis or keratitis
• Previous chemotherapy
• Previous radiation
• Chronic glaucoma therapy

Diagnosis

Diagnosis is based primarily on:

• History
• Eyelid and lacrimal examination
• Probing and irrigation
• Selected imaging when an atypical or secondary cause is suspected

History

The most common complaint is:

Persistent tearing

Usually the tearing is:

• Unilateral
• Constant or intermittent
• Worse outdoors or in cold/windy conditions

Patients may also complain of:

• Blurred vision
• Difficulty reading
• Difficulty driving
• Tears running down the cheek
• Mucous discharge
• Recurrent painful swelling near the medial canthus

Epiphora can have a substantial effect on daily activities and quality of life.

Physical Examination

A complete examination should first exclude other causes of tearing.

Assess:

• Eyelid position
• Punctal position
• Punctal stenosis
• Lash position
• Blink function
• Lacrimal pump function
• Conjunctiva
• Cornea
• Tear film
• Anterior chamber

Tear Meniscus

An elevated tear meniscus or increased tear lake supports impaired drainage.

A tear lake greater than approximately:

2 mm

may suggest significant outflow obstruction.

Lacrimal Sac Examination

Palpate the lacrimal sac region.

Pressure over the lacrimal sac may produce:

• Clear reflux
• Mucous reflux
• Mucopurulent material
• Purulent discharge

Reflux through the puncta supports obstruction distal to the canalicular system.

Important Tumor Warning Sign

A firm mass above the medial canthal tendon is particularly concerning for a lacrimal sac neoplasm.

Other warning features include:

• Bloody tears
• Bloody reflux
• Persistent unilateral symptoms
• Palpable firm mass
• Failure of standard treatment

These findings warrant imaging and specialist evaluation.

Nasal Examination

The nasal cavity should be assessed for:

• Septal deviation
• Inferior turbinate abnormalities
• Nasal masses
• Chronic inflammation
• Postsurgical changes
• Structural narrowing

ENT evaluation may be helpful in selected patients.

Diagnostic Testing

Laboratory Tests

Routine laboratory testing does not diagnose NLDO.

If purulent discharge is present, consider:

• Gram stain
• Bacterial culture
• Sensitivity testing

This is especially useful in:

• Recurrent infection
• Severe dacryocystitis
• Unusual organisms
• Treatment failure

Probing and Irrigation

Lacrimal probing and irrigation are among the most useful office tests.

They help determine:

• Whether the canaliculi are patent
• Whether obstruction is partial or complete
• Approximate level of obstruction

Interpretation of Irrigation

Fluid reaches the nose or throat

Suggests:

• Patent drainage system
• Possibly partial obstruction if flow is delayed or requires pressure

Reflux through the opposite punctum

Suggests obstruction distal to the common canaliculus or nasolacrimal duct.

Reflux through the same punctum

May suggest canalicular obstruction.

Jones Dye Tests

Jones I Test

A functional drainage test.

Fluorescein is placed in the conjunctival sac and recovery in the nose suggests functional drainage.

Jones II Test

Used when Jones I is negative.

It helps distinguish:

• Functional delay
• Partial anatomic obstruction

These tests are now used less commonly than direct irrigation and modern imaging.

Schirmer Testing

Schirmer testing measures tear production.

It may help determine whether tearing results from:

• Excessive tear production
• Reflex tearing
• Drainage failure

It does not directly diagnose NLDO.

Imaging

Routine imaging is not necessary in straightforward primary acquired NLDO.

CT or MRI

Imaging is indicated when there is concern for:

• Lacrimal sac tumor
• Nasal or sinus mass
• Orbital involvement
• Trauma
• Atypical obstruction
• Bloody tears
• Palpable mass
• Recurrent disease after surgery

CT is particularly useful for:

• Bone
• Sinuses
• Trauma

MRI is useful for:

• Soft tissue
• Suspected neoplasm
• Infiltrative disease

Dacryocystography

Dacryocystography can outline the anatomy of the lacrimal drainage system and localize obstruction.

It is now usually reserved for:

• Complex cases
• Recurrent obstruction
• Surgical planning

Dacryoscintigraphy

Dacryoscintigraphy using technetium can assess the functional transit of tears through the lacrimal system.

It is rarely required.

Pathology

Histopathology in primary acquired NLDO typically shows:

• Chronic inflammation
• Fibrosis
• Mucosal thickening

When obstruction is secondary to systemic disease, pathology may reveal the cause.

Examples include:

• Granulomatous inflammation in sarcoidosis
• Vasculitic inflammation
• Neoplastic cells

Differential Diagnosis

Not all tearing is caused by NLDO.

Important differential diagnoses include:

• Dry eye disease with reflex tearing
• Blepharitis
• Conjunctivitis
• Trichiasis
• Corneal foreign body
• Corneal abrasion
• Entropion
• Ectropion
• Punctal stenosis
• Canalicular obstruction
• Lacrimal pump dysfunction
• Acute angle-closure glaucoma
• Lacrimal sac tumor

Dry Eye and Reflex Tearing

Dry eye may paradoxically produce excessive tearing because ocular surface irritation stimulates reflex lacrimation.

Signs of ocular surface disease should therefore be sought before diagnosing NLDO.

Treatment

Definitive treatment of symptomatic complete acquired NLDO is usually surgical.

Medical therapy is mainly used to treat:

• Infection
• Inflammation
• Associated ocular surface disease

Dacryocystitis

Stagnant tears within an obstructed system can become infected, producing:

Acute dacryocystitis

Clinical features include:

• Pain
• Erythema
• Tender swelling below the medial canthus
• Purulent discharge
• Fever in more severe cases

Antibiotic Therapy

Acute dacryocystitis usually requires:

• Systemic antibiotics

Antibiotic selection should reflect:

• Severity
• Local microbial patterns
• Culture results when available
• Patient comorbidities

Severe infection may require intravenous antibiotics.

Actinomyces

Chronic canalicular infection caused by Actinomyces should be considered when there are:

• Recurrent unilateral discharge
• Canalicular swelling
• Concretions or dacryoliths

Definitive treatment usually requires removal of the concretions rather than antibiotics alone.

Dacryocystorhinostomy

DCR

Dacryocystorhinostomy (DCR) is the standard definitive treatment for symptomatic acquired distal NLDO.

The procedure creates a new drainage pathway between:

• Lacrimal sac
• Nasal cavity

bypassing the obstructed nasolacrimal duct.

External DCR

An external skin incision is used to access the lacrimal sac.

Advantages include:

• Excellent visualization
• High success rate
• Ability to obtain lacrimal sac tissue for pathology

Disadvantages include:

• Small external scar
• More disruption of medial canthal tissues

Endoscopic DCR

Performed through the nasal cavity.

Advantages include:

• No external scar
• Direct visualization of intranasal pathology
• Preservation of medial canthal structures

Success rates are generally comparable to external DCR when performed by experienced surgeons.

Silicone Intubation

A silicone stent may be used in selected DCR procedures to help maintain ostium patency.

It is not mandatory in every uncomplicated DCR.

It may be particularly useful in:

• Canalicular disease
• Revision surgery
• Complex anatomy
• Significant scarring

The duration of stenting varies according to the clinical situation.

Balloon Dacryoplasty

Balloon dilation may be considered for:

• Partial obstruction
• Selected stenotic lesions

Its success in acquired adult complete NLDO is generally lower than DCR.

Probing

Simple probing is:

• Often effective in congenital NLDO
• Generally much less effective as definitive treatment for established acquired adult NLDO

Referral

Refer to ophthalmology or an oculoplastic/lacrimal specialist when:

• Epiphora is persistent and affects quality of life
• Dacryocystitis occurs
• Obstruction is suspected
• A mass is palpable
• Bloody tears are present
• Surgery is being considered

In-Patient Considerations

Most NLDO is managed as an outpatient.

Hospital admission may be required if infection progresses to:

• Severe preseptal cellulitis
• Orbital cellulitis
• Sepsis
• Significant systemic illness

Follow-Up After DCR

Postoperative follow-up typically assesses:

• Wound healing
• Ostium patency
• Silicone stent position if one is used
• Infection
• Granulation tissue
• Recurrence of epiphora

If a stent prolapses or extrudes, the patient should contact the treating surgeon rather than manipulating it extensively.

Patient Education

Patients should understand that NLDO causes tearing because tears cannot drain normally into the nose.

They should seek prompt care for:

• Painful medial canthal swelling
• Purulent discharge
• Fever
• Increasing eyelid redness
• Visual symptoms
• Bloody tears

Prognosis

The prognosis is generally excellent after appropriate treatment.

DCR has a high success rate, commonly in the range of approximately:

80–95%

depending on:

• Surgical technique
• Cause of obstruction
• Canalicular involvement
• Prior surgery
• Surgeon experience

Complications of NLDO

Potential complications include:

• Chronic epiphora
• Mucous discharge
• Purulent discharge
• Recurrent conjunctivitis
• Dacryocystitis
• Preseptal cellulitis
• Orbital cellulitis

Surgical Complications

Rare complications of lacrimal surgery include:

• Bleeding
• Infection
• Scar formation
• Restenosis
• Stent displacement
• Granulation tissue
• Injury to surrounding structures
• Rare CSF leak
• Very rare intracranial infection

Ophthalmology Pearls

• Adult acquired NLDO typically presents with chronic unilateral epiphora.
• Primary acquired NLDO is usually caused by chronic fibro-inflammatory stenosis of the nasolacrimal duct.
• Always examine the eyelids, puncta, ocular surface, and nasal anatomy before assuming the tearing is caused by NLDO.
• Reflux of mucopurulent material with lacrimal sac pressure strongly supports distal drainage obstruction.
• A firm mass above the medial canthal tendon or bloody tears should raise concern for lacrimal sac neoplasm.
• Probing and irrigation are among the most useful diagnostic procedures.
• DCR is the standard definitive treatment for symptomatic complete acquired NLDO.
• External and endoscopic DCR both have high success rates.
• Balloon dilation is more suitable for selected partial obstructions than for complete adult NLDO.
• Acute dacryocystitis requires prompt systemic antibiotics; definitive surgery is usually performed after the acute infection has settled.
• Orbital cellulitis secondary to NLDO is uncommon but requires urgent hospital-based treatment.

Ophthalmology – Nasolacrimal Developmental Anomalies

Basics

Description

Nasolacrimal developmental anomalies are congenital abnormalities arising during formation of the lacrimal drainage system.

They may involve the:

• Lacrimal puncta
• Canaliculi
• Lacrimal sac
• Nasolacrimal duct

Examples include:

• Supernumerary lacrimal puncta
• Accessory canaliculi
• Congenital lacrimal fistula
• Canalicular or lacrimal sac diverticulum
• Agenesis of puncta
• Punctal atresia
• Canalicular agenesis or atresia
• Abnormal communications within the lacrimal drainage system

Some anomalies are asymptomatic, whereas others cause:

• Epiphora
• Mucous or purulent discharge
• Recurrent dacryocystitis
• Periocular cellulitis

⸻

Epidemiology

These abnormalities are rare.

The true incidence and prevalence are not well defined because minor anomalies may remain undiagnosed.

⸻

Risk Factors and Associations

Congenital lacrimal drainage abnormalities may occur as isolated defects or as part of a systemic syndrome.

Reported associations include:

• Treacher Collins syndrome
• Other branchial arch syndromes
• Down syndrome
• Craniofacial clefts
• Amniotic band sequence
• Eyelid developmental abnormalities
• Other craniofacial dysmorphic syndromes

Congenital lacrimal fistula has been particularly described in association with Down syndrome.

⸻

Genetics

The inheritance pattern usually reflects the underlying syndrome.

Isolated congenital lacrimal fistula may occasionally show:

Autosomal dominant inheritance

with variable expression.

Genetic counseling should be considered when:

• Other congenital abnormalities are present
• There is a positive family history
• A recognizable syndrome is suspected

⸻

Embryology and Pathophysiology

The lacrimal drainage system develops from a cord of surface ectoderm located between the:

• Maxillary process
• Frontonasal process

This epithelial cord normally becomes buried and later canalizes to form the:

• Canaliculi
• Lacrimal sac
• Nasolacrimal duct

Developmental abnormalities may result from:

• Failure of normal ectodermal invagination
• Incomplete separation of the epithelial cord from the surface
• Abnormal outbudding of the epithelial cord
• Abnormal branching
• Incomplete canalization
• Failure of canalization at one or more levels

⸻

Etiology

When isolated, the cause is often unknown.

Possible etiologies include:

• Sporadic developmental error
• Genetic syndrome
• Craniofacial dysmorphism
• Abnormal facial cleft development

⸻

Types of Nasolacrimal Developmental Anomalies

Supernumerary Puncta

One or more additional lacrimal puncta may be present.

They may:

• Drain into the normal canalicular system
• Communicate with an accessory canaliculus
• Be completely nonfunctional

Most are asymptomatic.

⸻

Accessory Canaliculus

An accessory canalicular channel may accompany a supernumerary punctum.

Symptoms depend on whether the channel:

• Communicates with the lacrimal sac
• Ends blindly
• Contributes to abnormal tear drainage

⸻

Congenital Lacrimal Fistula

A lacrimal fistula is an abnormal epithelial-lined tract connecting the lacrimal drainage system to the skin.

It usually appears as a small opening:

• Inferonasal to the medial canthus
• Near the lacrimal sac region

It may communicate with the:

• Canaliculus
• Lacrimal sac
• Nasolacrimal duct

Possible symptoms include:

• Tear drainage through the skin opening
• Mucous discharge
• Recurrent infection
• Skin irritation

Some fistulae are completely asymptomatic.

⸻

Lacrimal Diverticulum

A diverticulum is an abnormal outpouching from the:

• Canaliculus
• Lacrimal sac
• Nasolacrimal duct

It may cause:

• Local swelling
• Mucous retention
• Recurrent infection
• Intermittent discharge

⸻

Punctal Agenesis or Atresia

One or more puncta may be:

• Completely absent
• Covered by epithelium
• Severely stenotic

This can produce:

• Chronic epiphora
• Tear overflow
• Recurrent irritation

The underlying canalicular system may also be absent or malformed.

⸻

Canalicular Agenesis or Atresia

The canaliculus may be:

• Completely absent
• Partially developed
• Blind-ending
• Obstructed

The severity of symptoms depends on whether another patent drainage pathway exists.

⸻

Diagnosis

Diagnosis is primarily clinical.

A complete assessment should determine:

• Whether puncta are present
• Whether the canaliculi are patent
• Whether an accessory opening or fistula exists
• Whether the lacrimal sac is enlarged or infected
• Whether the nasolacrimal system is obstructed

⸻

History

Important history includes:

• Tearing since infancy
• Chronic or intermittent discharge
• Recurrent conjunctivitis
• Recurrent dacryocystitis
• Swelling near the medial canthus
• Discharge from an abnormal skin opening
• Previous probing or lacrimal surgery
• Associated congenital anomalies
• Family history of lacrimal abnormalities
• Known genetic syndrome

⸻

Physical Examination

A full ophthalmic examination should include careful inspection of the:

• Upper punctum
• Lower punctum
• Lacrimal papillae
• Medial canthus
• Lacrimal sac area

Look for:

• Absent punctum
• Accessory punctum
• Fistulous opening
• Swelling
• Erythema
• Mucopurulent discharge

⸻

Lacrimal Sac Compression

Gentle pressure over the lacrimal sac may produce:

• Mucous reflux
• Purulent reflux
• Discharge through a punctum
• Discharge through a congenital fistula

This suggests retained material within the lacrimal drainage system.

⸻

Systemic Examination

Assess for:

• Facial asymmetry
• Craniofacial clefts
• Eyelid abnormalities
• Ear abnormalities
• Mandibular hypoplasia
• Other dysmorphic features

These findings may suggest an underlying syndrome.

⸻

Diagnostic Testing

Laboratory Testing

Routine laboratory investigations are not required in uncomplicated developmental anomalies.

If infection is suspected, consider:

• Conjunctival or lacrimal discharge culture
• CBC in a systemically unwell patient
• Blood cultures if severe systemic infection is suspected

⸻

Fluorescein Dye Disappearance Test

This is a simple test of lacrimal drainage.

A drop of fluorescein is placed into the lower conjunctival fornix.

The amount remaining after approximately 5 minutes is assessed.

Delayed clearance suggests:

• Impaired lacrimal drainage
• Partial or complete obstruction

The test is particularly useful in children.

⸻

Probing and Irrigation

Probing and irrigation can serve both:

• Diagnostic
• Therapeutic

purposes.

It is particularly useful when at least one punctum is patent.

It may help determine:

• Level of obstruction
• Presence of canalicular continuity
• Communication with a fistula
• Patency of the nasolacrimal duct

⸻

Imaging

Imaging is usually unnecessary.

Rarely, investigations may include:

• Dacryocystography
• CT
• MRI

when there is:

• Complex craniofacial anatomy
• Uncertain fistulous tract
• Recurrent infection
• Prior surgery
• Suspected mass or unusual structural abnormality

⸻

Differential Diagnosis

Important differential diagnoses include:

• Congenital nasolacrimal duct obstruction
• Dacryocele
• Lacrimal sac mucocele
• Acquired punctal stenosis
• Canalicular obstruction
• Acute dacryocystitis
• Congenital glaucoma

⸻

Important Differential: Congenital Glaucoma

A tearing infant should not automatically be assumed to have nasolacrimal obstruction.

Congenital glaucoma may also cause:

• Epiphora
• Photophobia
• Blepharospasm
• Corneal enlargement
• Corneal haze

These features require urgent ophthalmic evaluation.

⸻

Treatment

Treatment depends on:

• Type of anomaly
• Degree of obstruction
• Presence of infection
• Severity of symptoms
• Associated syndromic abnormalities

Asymptomatic patients may require no treatment.

⸻

Medical Treatment

There is no medication that corrects the developmental abnormality itself.

If infection is present, treatment may include:

• Systemic antibiotics
• Topical antibiotics as an adjunct in selected cases

Antibiotic choice should reflect:

• Severity
• Age
• Local microbiology
• Culture results when available

⸻

Probing and Irrigation

When a patent punctum is present, probing and irrigation are often the first interventional steps.

They may:

• Establish anatomy
• Relieve obstruction
• Confirm communication with a fistulous tract

⸻

Punctoplasty

Punctoplasty may be considered when:

• A punctum is present but stenotic
• There is a membranous covering
• Tear drainage is impaired

⸻

Excision of Fistula or Diverticulum

Symptomatic congenital fistulae or diverticula may be treated surgically.

Options include:

• Complete excision
• Excision with tract closure
• Cauterization in selected cases

Complete tract identification is important to reduce recurrence.

⸻

Dacryocystorhinostomy

Dacryocystorhinostomy (DCR) may be required when there is significant distal drainage obstruction involving the lacrimal sac or nasolacrimal duct.

It may be performed:

• With intubation
• Without intubation

depending on anatomy and age.

⸻

When Observation Is Appropriate

If the anomaly causes:

• Minimal tearing
• No infection
• No significant discharge
• No functional or cosmetic concern

treatment may be entirely elective.

⸻

Referral

Consider referral to:

• Oculoplastic/lacrimal specialist for complex anatomy or surgery
• Pediatric ophthalmologist in children
• Medical genetics for syndromic features
• Craniofacial team if facial clefting or major dysmorphism is present

⸻

In-Patient Considerations

Hospital admission is generally unnecessary.

Admission may be required if the patient develops:

• Severe dacryocystitis
• Preseptal cellulitis
• Orbital cellulitis
• Systemic illness
• Sepsis

⸻

Dacryocystitis

An obstructed but proximally patent lacrimal drainage system can predispose to infection.

Symptoms include:

• Painful swelling over the lacrimal sac
• Erythema
• Tenderness
• Purulent discharge
• Fever in severe cases

This requires prompt treatment.

⸻

Cellulitis

Infection may spread into surrounding tissues and cause:

• Preseptal cellulitis
• Rarely orbital involvement

Young children require especially careful observation because infection may progress rapidly.

⸻

Ongoing Care

Follow-Up

Follow-up depends on:

• Symptoms
• Type of anomaly
• Previous surgery
• Infection history

Patients who are asymptomatic may only require periodic observation.

⸻

Patient Monitoring

Monitor for:

• Increasing epiphora
• New discharge
• Medial canthal swelling
• Recurrent conjunctivitis
• Dacryocystitis
• Cellulitis

⸻

Patient and Family Education

Families should be advised to seek medical attention if there is:

• Increasing redness near the medial canthus
• Painful swelling
• Purulent discharge
• Fever
• Rapid progression of eyelid swelling

They should also understand that many congenital lacrimal anomalies are benign and have an excellent outcome when treatment is required.

⸻

Prognosis

The prognosis is generally excellent.

Most patients either:

• Remain asymptomatic
• Respond well to surgical correction
• Have good long-term lacrimal drainage after appropriate management

Outcome depends on the degree of associated canalicular and nasolacrimal malformation.

⸻

Complications

The main complications are:

• Dacryocystitis
• Preseptal cellulitis
• Chronic epiphora
• Recurrent mucopurulent discharge
• Recurrent conjunctivitis
• Cosmetic concerns
• Rare recurrence after fistula surgery

⸻

Ophthalmology Pearls

• Nasolacrimal developmental anomalies include absent or accessory puncta, canalicular abnormalities, fistulae, and diverticula.
• Congenital lacrimal fistula may occur as an isolated defect or as part of a craniofacial syndrome.
• Always inspect both upper and lower puncta carefully in a child with unexplained epiphora.
• A small skin opening near the medial canthus may represent a congenital lacrimal fistula.
• Fluorescein dye disappearance testing is a simple way to assess lacrimal drainage, especially in children.
• Probing and irrigation can be both diagnostic and therapeutic when a patent punctum is present.
• If symptoms are minimal and there is no infection, treatment may be elective or unnecessary.
• A blocked but partially patent lacrimal system can predispose to dacryocystitis and cellulitis.
• In any infant with tearing, remember to exclude congenital glaucoma, particularly if photophobia, blepharospasm, corneal haze, or an enlarged cornea is present.

Ophthalmology – Nanophthalmos

Basics

Description

Nanophthalmos is a rare congenital developmental disorder in which the eye is globally small but otherwise relatively well formed.

Typical features include:

• Short axial length, often approximately 14.5–20 mm
• Marked hyperopia
• Shallow anterior chamber
• Crowded anterior segment
• Thick sclera
• Normal-sized or relatively large lens
• Increased lens-to-eye volume ratio
• Crowded optic disc with apparent disc elevation or pseudopapilledema
• Increased risk of angle-closure glaucoma
• Increased risk of uveal effusion and exudative retinal detachment

Unlike many forms of microphthalmia, nanophthalmos generally lacks major congenital structural malformations such as coloboma.

Epidemiology

Nanophthalmos is uncommon.

Men and women are affected approximately equally.

Risk Factors

Nanophthalmos is congenital, so there is no acquired environmental risk factor.

The major clinical risk relates to the anatomy of the small eye, particularly:

• Short axial length
• Shallow anterior chamber
• Crowded angle
• Thick sclera

These predispose to glaucoma and uveal effusion.

Genetics

Most cases are sporadic.

Familial disease can occur with:

• Autosomal dominant inheritance
• Autosomal recessive inheritance

Reported genes and loci include:

• MFRP – associated particularly with autosomal recessive nanophthalmos
• Autosomal dominant loci historically described on chromosome 11

Genetic heterogeneity is substantial.

Pathophysiology

Nanophthalmos is thought to result from abnormal or arrested ocular growth after closure of the embryonic fissure.

The eye remains disproportionately small.

Important anatomic consequences include:

• Reduced axial length
• Thickened sclera
• High lens-to-globe volume ratio
• Shallow anterior chamber
• Narrow or occludable drainage angle

Thick Sclera

The sclera is characteristically:

• Thick
• Abnormally rigid
• Histologically disorganized

This may impair normal transscleral fluid movement and vortex vein drainage.

As a result, nanophthalmic eyes are predisposed to:

• Choroidal congestion
• Choroidal detachment
• Uveal effusion
• Serous retinal detachment

Lens–Eye Disproportion

Although the globe is small, the lens is usually normal in size or relatively thick.

Therefore, the lens occupies a disproportionately large portion of the eye.

This pushes the:

• Iris
• Lens
• Iris-lens diaphragm

forward, producing a shallow anterior chamber and increasing the risk of:

Angle-closure glaucoma

Commonly Associated Ocular Conditions

Nanophthalmos may be associated with:

• High hyperopia
• Angle-closure glaucoma
• Optic disc crowding
• Optic nerve head drusen
• Retinal folds
• Macular folds
• Yellow macular pigmentation
• Macular hypoplasia
• Pigmentary retinal changes
• Retinal dystrophy
• Retinitis pigmentosa-like changes
• Acquired retinoschisis
• Uveal effusion
• Exudative retinal detachment

Systemic Associations

Most patients have isolated ocular disease.

Rare reported associations include:

• Cryptorchidism
• Hallermann–Streiff syndrome

Systemic findings should prompt consideration of a syndromic form rather than isolated nanophthalmos.

Diagnosis

Diagnosis is based on the combination of:

• Short axial length
• High hyperopia
• Shallow anterior chamber
• Thick sclera
• Crowded anterior and posterior segments

History

Typical history may include:

• Thick hyperopic spectacle lenses since childhood
• Longstanding high hyperopia
• Reduced vision from amblyopia
• Family history of glaucoma
• Intermittent headaches or ocular discomfort from angle closure
• Sudden blurred vision from acute angle closure or uveal effusion

Refractive Error

Marked hyperopia is typical.

Historical ranges include approximately:

+7 to +20 D

although severity varies.

Rare patients may be:

• Emmetropic
• Mildly myopic

because increased corneal or lenticular refractive power can partially offset the short axial length.

Amblyopia

Children with severe uncorrected hyperopia are at risk of:

• Bilateral ametropic amblyopia
• Anisometropic amblyopia
• Strabismic amblyopia

Early optical correction is therefore essential.

Slit-Lamp Examination

Typical findings include:

• Shallow anterior chamber
• Forward-positioned iris-lens diaphragm
• Crowded anterior segment
• Usually normal corneal diameter

The cornea is often near normal in size, which helps distinguish nanophthalmos from some other microphthalmic conditions.

Gonioscopy

Gonioscopy commonly demonstrates:

• Narrow angles
• Occludable angles
• Peripheral anterior synechiae in more advanced disease

Angle configuration should be reassessed periodically.

Intraocular Pressure

IOP may be:

• Normal
• Intermittently elevated
• Chronically elevated

Patients are at substantial lifetime risk of angle-closure glaucoma.

Fundus Examination

Typical posterior segment findings include:

• Crowded optic nerve head
• Apparent disc swelling or pseudopapilledema
• Optic disc drusen in some patients
• Macular folds
• Pigmentary retinal abnormalities
• Choroidal thickening
• Uveal effusion in complicated cases

Pseudopapilledema

A crowded optic disc in a very short eye can appear elevated.

This should be distinguished from true papilledema.

Helpful clues include:

• Small crowded disc
• Absence of other signs of true optic nerve edema
• Possible optic disc drusen
• Stable appearance over time

Diagnostic Testing

A-Scan Ultrasonography

A-scan is useful for measuring:

• Axial length

A short axial length strongly supports the diagnosis.

B-Scan Ultrasonography

B-scan can evaluate:

• Thickened sclerochoroidal wall
• Choroidal detachment
• Uveal effusion
• Serous retinal detachment
• Optic nerve head drusen in some cases

Ultrasound Biomicroscopy

UBM may help assess:

• Anterior chamber depth
• Ciliary body configuration
• Iris-lens relationship
• Angle crowding

This is particularly useful when mechanism of angle closure is uncertain.

OCT

Optical coherence tomography can demonstrate:

• Macular folds
• Retinoschisis
• Subretinal fluid
• Retinal architecture
• Optic nerve head crowding

Orbital MRI

MRI is usually unnecessary for straightforward nanophthalmos.

It may occasionally be useful in complex cases to evaluate:

• Globe size
• Choroidal thickening
• Choroidal detachment
• Associated orbital abnormalities

Pathology

Histologic abnormalities may include:

• Markedly thick sclera
• Abnormal collagen arrangement
• Altered extracellular matrix
• Reduced glycosaminoglycan content
• Increased fibronectin

These abnormalities contribute to poor scleral permeability.

Differential Diagnosis

Important differential diagnoses include:

• Microphthalmia
• Anterior segment microphthalmos
• Posterior microphthalmos
• High hyperopia without nanophthalmos
• Phthisis bulbi

Nanophthalmos vs Microphthalmia

Nanophthalmos

Usually:

• Globally small eye
• No major developmental structural defect
• Short axial length
• High hyperopia
• Thick sclera
• Shallow anterior chamber
• High angle-closure risk

Microphthalmia

May have:

• Small globe
• Coloboma
• Cataract
• Persistent fetal vasculature
• Retinal dysplasia
• Other congenital malformations

Nanophthalmos vs Posterior Microphthalmos

Posterior microphthalmos primarily affects the posterior segment.

Typical features include:

• Short axial length
• Relatively normal anterior chamber depth
• Less anterior segment crowding
• Papillomacular retinal fold
• High hyperopia

Nanophthalmos involves both anterior and posterior segments and has a much greater tendency toward:

• Angle closure
• Uveal effusion

Treatment

There is no treatment that increases the congenital axial length.

Management focuses on:

• Correcting refractive error
• Preventing amblyopia
• Detecting angle closure early
• Treating glaucoma
• Managing uveal effusion
• Minimizing surgical complications

Refractive Correction

Children should receive early correction of:

• Hyperopia
• Astigmatism
• Anisometropia

Options include:

• Spectacles
• Contact lenses

Early optical correction is essential to prevent amblyopia.

Amblyopia Treatment

If amblyopia develops, treatment may include:

• Full refractive correction
• Patching
• Penalization

depending on age and visual asymmetry.

Narrow Angles

Patients with narrow or occludable angles require close monitoring.

Management may include:

• Gonioscopy
• IOP monitoring
• Optic nerve assessment
• Consideration of laser peripheral iridotomy when pupillary block is an important component

Because nanophthalmic eyes are anatomically unusual, treatment should be individualized by an experienced glaucoma specialist.

Laser Peripheral Iridotomy

Laser peripheral iridotomy may help relieve a component of:

Pupillary-block angle closure

However, angle crowding may persist because of:

• Large lens relative to globe size
• Anterior ciliary body configuration
• Plateau-like anatomy

Therefore, iridotomy does not always fully open the angle.

Iridoplasty

If significant angle closure persists after a patent iridotomy and there is no major choroidal effusion, laser peripheral iridoplasty may occasionally be considered.

Glaucoma Medical Therapy

If IOP remains elevated, treatment may include standard pressure-lowering medications.

Miotics such as pilocarpine are generally used cautiously or avoided because they may:

• Relax zonules
• Allow further forward movement of the lens
• Worsen anterior chamber crowding

Lens Extraction

Lens extraction may deepen the anterior chamber and reduce angle crowding in selected patients.

However, surgery in nanophthalmos is technically difficult and carries increased risk of:

• Uveal effusion
• Choroidal detachment
• Suprachoroidal hemorrhage
• Malignant glaucoma
• Exudative retinal detachment

Therefore, intraocular surgery should be undertaken only when clearly indicated and with careful perioperative planning.

Cataract Surgery

Cataract surgery is particularly challenging because of:

• Very short axial length
• Shallow anterior chamber
• High-power IOL requirement
• Crowded anterior segment
• Increased postoperative complication risk

Accurate biometry is essential.

Modern IOL calculations should use formulas optimized for very short eyes when available.

Glaucoma Surgery

If glaucoma remains uncontrolled despite:

• Laser treatment
• Maximum tolerated medical therapy

surgery may be required.

Options include:

• Trabeculectomy
• Glaucoma drainage procedures
• Lens extraction in selected cases

Because postoperative hypotony can trigger major posterior segment complications, surgery should be performed cautiously.

Uveal Effusion

Uveal effusion may occur:

• Spontaneously
• After laser procedures
• After intraocular surgery

Possible manifestations include:

• Choroidal detachment
• Serous retinal detachment
• Vision loss

Treatment of Uveal Effusion

Management depends on severity.

Options may include:

• Observation in mild cases
• Systemic or local corticosteroids in selected inflammatory or postoperative settings
• Surgical scleral windows/sclerotomies
• Vortex vein decompression in selected severe cases

The goal of surgery is to improve transscleral drainage and reduce choroidal congestion.

Scleral Surgery

Surgical approaches may include:

• Partial-thickness sclerectomy
• Full-thickness sclerotomy
• Posterior scleral windows

These procedures are particularly useful in severe recurrent uveal effusion related to thickened sclera.

Surgical Risk

Nanophthalmic eyes are among the highest-risk eyes for intraocular surgery.

Potential perioperative complications include:

• Uveal effusion
• Choroidal detachment
• Suprachoroidal hemorrhage
• Exudative retinal detachment
• Malignant glaucoma
• Severe postoperative shallowing of the anterior chamber

Preoperative recognition of nanophthalmos is therefore critical.

Malignant Glaucoma

Nanophthalmos predisposes to aqueous misdirection, historically called malignant glaucoma.

Features include:

• Very shallow or flat anterior chamber
• Elevated IOP
• Forward displacement of the lens-iris diaphragm
• Patent peripheral iridotomy

This is an ophthalmic emergency requiring specialist management.

Issues for Referral

Referral may be required to:

• Glaucoma specialist for narrow angles or glaucoma
• Retina specialist for uveal effusion or retinal detachment
• Cataract/anterior segment surgeon for complex lens surgery
• Pediatric ophthalmologist for childhood hyperopia and amblyopia
• Medical genetics when familial disease is suspected

Ongoing Care

Follow-Up

All patients require regular ophthalmic monitoring.

Follow-up should assess:

• Visual acuity
• Refraction
• Anterior chamber depth
• Gonioscopy
• IOP
• Optic nerve
• Macula
• Signs of choroidal or retinal effusion

Patients with narrow angles or glaucoma risk may require review approximately every 3–6 months, depending on anatomy and clinical findings.

Childhood Monitoring

In children, priorities include:

• Early refractive correction
• Amblyopia prevention
• Strabismus monitoring
• Visual development

Adult Monitoring

With increasing age, patients require particular surveillance for:

• Progressive angle narrowing
• Peripheral anterior synechiae
• Glaucoma
• Cataract
• Uveal effusion

Risk becomes particularly important in middle and later adulthood.

Patient Education

Patients should understand that:

• Their eyes are anatomically smaller than normal
• High hyperopia is expected
• Angle-closure glaucoma can develop
• Intraocular surgery carries increased risk
• Sudden visual symptoms require urgent evaluation

Warning symptoms include:

• Severe ocular pain
• Headache
• Halos
• Sudden blurred vision
• Red eye
• Nausea or vomiting
• Sudden loss of vision

Prognosis

Visual prognosis can be good when:

• Refractive error is corrected early
• Amblyopia is prevented
• Glaucoma does not develop
• Uveal effusion does not occur

Prognosis becomes more guarded in patients with:

• Uncontrolled glaucoma
• Recurrent uveal effusion
• Exudative retinal detachment
• Major intraoperative or postoperative complications

Complications

Major complications include:

• Angle-closure glaucoma
• Chronic peripheral anterior synechiae
• Optic neuropathy
• Amblyopia
• Uveal effusion
• Choroidal detachment
• Exudative retinal detachment
• Malignant glaucoma
• Cataract
• Surgical complications

Ophthalmology Pearls

• Nanophthalmos = small but structurally formed eye + short axial length + high hyperopia + thick sclera + shallow anterior chamber.
• A major clue is the disproportionately large lens relative to globe size.
• The two major vision-threatening problems are angle-closure glaucoma and uveal effusion.
• Crowded optic discs may mimic papilledema, producing pseudopapilledema.
• Thick sclera interferes with normal transscleral fluid drainage and predisposes to choroidal and uveal effusion.
• Laser peripheral iridotomy may relieve pupillary block but may not completely resolve angle crowding.
• Miotics can worsen anterior segment crowding and should be used cautiously.
• Intraocular surgery carries unusually high risk of uveal effusion, malignant glaucoma, and exudative retinal detachment.
• Children need early hyperopic correction to prevent amblyopia.
• Always distinguish nanophthalmos from microphthalmia and posterior microphthalmos, because their anatomy and complications differ.

Ophthalmology – Myotonic Dystrophy

Basics

Description

Myotonic dystrophy is an inherited multisystem disorder characterized by:

• Myotonia
• Progressive muscle weakness
• Cataract formation
• Cardiac conduction disease
• Respiratory dysfunction
• Endocrine abnormalities
• Gastrointestinal dysmotility
• Variable cognitive and behavioral manifestations

It is the most common muscular dystrophy of adulthood.

Two major forms are recognized:

Type 1 – DM1

Also called Steinert disease.

Features include:

• Approximately 98% of classic cases
• Onset from childhood to adulthood
• Distal and facial weakness are common
• Can occur in a severe congenital form
• More prominent multisystem involvement

Type 2 – DM2

Also called proximal myotonic myopathy.

Features include:

• Usually milder than DM1
• Typically adult onset
• More proximal muscle weakness
• Muscle pain is relatively common
• Congenital form is not typical

Epidemiology

Myotonic dystrophy affects men and women equally.

Typical age ranges include:

• DM1: childhood to approximately 40 years
• DM2: approximately 20–60 years

Prevalence varies considerably by population and geographic region.

A commonly cited overall prevalence is approximately:

1 in 8,000

although modern estimates vary.

Genetics

Myotonic dystrophy is inherited in an:

Autosomal dominant pattern

Both forms are caused by unstable nucleotide-repeat expansions.

DM1 Genetics

DM1 results from expansion of a:

CTG trinucleotide repeat

in the:

DMPK gene on chromosome 19

The number of repeats often increases between generations.

DM2 Genetics

DM2 results from expansion of a:

CCTG tetranucleotide repeat

in the:

CNBP gene on chromosome 3

This gene was historically called ZNF9.

Anticipation

Myotonic dystrophy demonstrates anticipation, particularly DM1.

This means:

• Symptoms may appear earlier in successive generations
• Disease severity may increase
• Repeat expansion tends to enlarge during transmission

Severe congenital DM1 is particularly associated with maternal transmission.

General Prevention

The disease itself cannot currently be prevented, but reproductive counseling may include:

• Genetic counseling
• Prenatal diagnosis
• Preimplantation genetic testing

Pathophysiology

The expanded nucleotide repeats are transcribed into abnormal RNA.

These abnormal RNA molecules:

• Accumulate within the nucleus
• Bind RNA-splicing proteins
• Disrupt normal messenger RNA processing
• Cause widespread abnormalities in multiple tissues

Important affected pathways include:

• Skeletal muscle chloride channels
• Insulin receptors
• Cardiac conduction proteins
• Troponin pathways

This explains the multisystem nature of the disorder.

Mechanism of Myotonia

Abnormal splicing of skeletal muscle chloride-channel RNA reduces normal chloride conductance.

This produces:

Delayed muscle relaxation after contraction

which is the hallmark of myotonia.

Ophthalmic Features

The most important ocular abnormalities include:

• Cataract
• Ptosis
• Orbicularis weakness
• Delayed eyelid opening after forceful closure
• Slow saccades
• Progressive external ophthalmoplegia
• Low intraocular pressure
• Pigmentary retinal abnormalities

Cataract

Cataract is the most common ocular manifestation.

The classic early finding is the:

Christmas tree cataract

characterized by:

• Multicolored
• Iridescent
• Crystalline
• Polychromatic lens opacities

They may appear:

• Red
• Green
• Blue
• Gold

under slit-lamp illumination.

Later Cataract Changes

As disease progresses, patients may develop:

• Stellate posterior cortical cataract
• Posterior subcapsular opacity
• More generalized visually significant cataract

Cataract may eventually become a major cause of visual impairment.

Eyelid Findings

Ptosis

Ptosis occurs because of weakness of:

• Levator palpebrae
• Facial musculature

Ptosis may be bilateral and progressive.

Orbicularis Weakness

Orbicularis oculi weakness may cause:

• Incomplete forceful eyelid closure
• Exposure symptoms
• Reduced blink strength

Eyelid Myotonia

After forceful eyelid closure, patients may have:

Delayed reopening of the eyes

because of myotonia of the orbicularis muscle.

Ocular Motility

Patients may develop:

• Slow saccades
• Mild external ophthalmoplegia
• Reduced ductions

Despite motility abnormalities:

Diplopia is often surprisingly uncommon

because weakness progresses slowly and is frequently symmetric.

Intraocular Pressure

Low intraocular pressure has been reported.

This generally does not cause symptoms but may reflect reduced ciliary body or ocular muscle function.

Retinal Findings

A pigmentary retinopathy may occur.

Possible findings include:

• RPE mottling
• Peripheral pigmentary change
• Retinal degeneration resembling mitochondrial retinopathy in some cases

The retinal findings are usually less clinically important than cataract and systemic disease.

History

Important symptoms include:

• Delayed relaxation after gripping
• Difficulty releasing a handshake
• Muscle stiffness
• Progressive muscle weakness
• Dysphagia
• Dysarthria
• Muscle pain, particularly in DM2
• Daytime somnolence
• Disturbed sleep
• Hypoventilation
• Constipation
• Abdominal discomfort
• Urinary or fecal incontinence
• Infertility
• Palpitations
• Syncope
• Blackouts
• Cognitive or behavioral changes

Women may also have:

• Pregnancy complications
• Difficult labor
• Increased obstetric risk

Physical Examination

Characteristic findings include:

• Myotonia
• Facial muscle weakness
• Temporal wasting
• Masseter wasting
• Frontal balding
• Long, thin facial appearance
• Slack mouth
• Neck flexor weakness
• Limb-muscle wasting

The characteristic facial appearance has historically been described as a:

“Hatchet face.”

Handshake Myotonia

When the patient grips the examiner’s hand firmly, they may have difficulty releasing it promptly.

This is a classic demonstration of:

Grip myotonia

Percussion Myotonia

Tapping certain muscles may cause:

• Sustained contraction
• Delayed relaxation

This can be demonstrated over muscles such as:

• Thenar eminence
• Tongue

Bulbar and Speech Findings

Patients may develop:

• Nasal speech
• Monotonous voice
• Dysarthria
• Dysphagia

Bulbar dysfunction increases aspiration risk.

Respiratory Findings

Respiratory involvement may include:

• Hypoventilation
• Sleep-disordered breathing
• Respiratory muscle weakness
• Excessive daytime sleepiness

Respiratory complications are an important cause of morbidity.

Cardiac Findings

Cardiac manifestations are particularly important because they can cause sudden death.

Possible abnormalities include:

• Sinus bradycardia
• AV block
• Bundle branch block
• Atrial arrhythmias
• Ventricular arrhythmias
• Cardiomyopathy

Patients may report:

• Palpitations
• Syncope
• Presyncope

Endocrine Findings

Possible endocrine abnormalities include:

• Insulin resistance
• Diabetes mellitus
• Testicular atrophy
• Infertility
• Thyroid dysfunction

Gastrointestinal Findings

Patients may experience:

• Dysphagia
• Constipation
• Abdominal pain
• Gastrointestinal dysmotility

Diagnostic Testing

Molecular Genetic Testing

The gold standard is molecular confirmation of the repeat expansion.

Testing includes:

• DMPK CTG expansion testing for DM1
• CNBP CCTG expansion testing for DM2

This usually confirms the diagnosis without the need for muscle biopsy.

Electromyography

EMG may demonstrate:

Myotonic discharges

often described acoustically as a waxing-and-waning “dive-bomber” pattern.

EMG can support the diagnosis when the phenotype is uncertain.

Laboratory Testing

Possible abnormalities include:

• Mildly elevated creatine kinase
• Insulin resistance
• Glucose intolerance

Immunoglobulin studies may occasionally show:

• Reduced IgG
• Reduced IgM

These findings are not diagnostic.

Brain MRI

MRI may demonstrate:

• Bilateral white-matter hyperintensities
• Frontal predominance
• Temporal or insular predominance

These abnormalities are more relevant in patients with cognitive or neurologic symptoms.

Slit-Lamp Examination

Slit-lamp examination is important because the characteristic:

Christmas tree cataract

may be highly suggestive of myotonic dystrophy, particularly in a young adult.

Electrocardiography

ECG may show:

• Prolonged PR interval
• Widened QRS complex
• AV conduction delay
• Intraventricular conduction abnormalities

Because conduction disease may be asymptomatic, regular cardiac surveillance is essential.

Additional Cardiac Testing

Depending on symptoms and disease severity, monitoring may include:

• Holter monitoring
• Event monitor
• Echocardiography
• Electrophysiologic studies

Pulmonary Testing

Assessment may include:

• Forced vital capacity
• Sleep study
• Overnight oximetry
• Blood gas testing in selected patients

These help detect respiratory muscle weakness and nocturnal hypoventilation.

Swallowing Assessment

Formal swallowing evaluation may be needed in patients with:

• Choking
• Aspiration
• Recurrent chest infections
• Dysphagia

Muscle Biopsy

Muscle biopsy is rarely needed now because genetic testing is definitive.

Histologic findings may include:

• Central nuclei
• Fiber-size variability
• Disruption of myofibrils
• Sarcoplasmic abnormalities
• Mitochondrial changes

Differential Diagnosis

Important differential diagnoses include:

• Other muscular dystrophies
• Other myotonic disorders
• Myotonia congenita
• Paramyotonia congenita
• Mitochondrial disease
• Chronic progressive external ophthalmoplegia
• Polymyositis
• Stiff-person syndrome
• Mild tetanus

Treatment

There is currently no curative treatment that reverses the genetic defect.

Management is:

• Multidisciplinary
• Preventive
• Supportive
• Directed at organ-specific complications

Muscle Weakness

Management may include:

• Regular low-to-moderate intensity exercise
• Physical therapy
• Occupational therapy
• Ankle-foot orthoses for foot drop

Excessive fatigue should be avoided.

Myotonia

Myotonia does not always require treatment.

When clinically troublesome, selected medications may be used by neurology.

Treatment depends on:

• Functional limitation
• Cardiac status
• Drug tolerance

Daytime Sleepiness

Management may include:

• Evaluation for sleep-disordered breathing
• Noninvasive ventilation
• CPAP or BiPAP when indicated
• Wake-promoting medications in selected patients

Modafinil may be considered in selected individuals.

Respiratory Support

Patients with nocturnal hypoventilation may benefit from:

• Noninvasive positive-pressure ventilation
• BiPAP

Respiratory status should be monitored longitudinally.

Cardiac Treatment

Conduction disease may require:

• Pacemaker
• Implantable cardioverter-defibrillator in selected patients

Cardiology follow-up is essential.

Cataract Surgery

Visually significant cataracts can be treated with:

Cataract extraction and intraocular lens implantation

Visual prognosis is generally good if there is no significant retinal or optic nerve disease.

Ptosis Surgery

Ptosis repair may be considered when ptosis:

• Obstructs the visual axis
• Causes significant functional impairment

However, surgery should be performed cautiously because:

• Orbicularis weakness may impair eyelid closure
• Overcorrection can cause lagophthalmos
• Exposure keratopathy may result

Ophthalmic Follow-Up

Regular ophthalmic examinations should monitor for:

• Cataract progression
• Visual acuity changes
• Ptosis
• Exposure keratopathy
• Ocular motility abnormalities
• Retinal changes

Multidisciplinary Follow-Up

Patients may require ongoing care from:

• Ophthalmology
• Neurology
• Cardiology
• Pulmonology
• Physical therapy
• Endocrinology
• Gastroenterology
• Genetics
• Sleep medicine

Genetic Counseling

Genetic counseling is important because inheritance is:

Autosomal dominant

Each affected individual generally has a 50% chance of transmitting the mutation to each child.

Anticipation should be discussed, particularly in DM1.

Anesthesia Considerations

Patients with myotonic dystrophy have an increased risk of complications during general anesthesia.

Potential problems include:

• Respiratory depression
• Aspiration
• Cardiac arrhythmias
• Prolonged ventilatory failure
• Abnormal sensitivity to sedatives and neuromuscular medications

The anesthesia team should always be informed of the diagnosis before surgery.

Prognosis

DM1

DM1 may significantly reduce life expectancy, particularly when there is:

• Severe cardiac disease
• Respiratory failure
• Congenital disease

DM2

DM2 is generally milder, and life expectancy is often near normal.

Complications

Major complications include:

• Cataract
• Ptosis
• Exposure keratopathy
• Progressive muscle weakness
• Respiratory insufficiency
• Aspiration
• Sleep-disordered breathing
• Cardiac conduction block
• Arrhythmia
• Sudden cardiac death
• Diabetes and insulin resistance
• Infertility
• Gastrointestinal dysmotility
• Increased perioperative and anesthesia risk

Ophthalmology Pearls

• Christmas tree cataract is the classic ocular finding of myotonic dystrophy.
• It consists of multicolored, iridescent crystalline lens opacities.
• Bilateral early cataract in a young adult should prompt consideration of a systemic neuromuscular disorder.
• Delayed eyelid opening after forceful closure is due to orbicularis myotonia.
• Ptosis results from progressive levator weakness.
• Ocular motility may be reduced, but diplopia is often uncommon because the ophthalmoplegia is slow and relatively symmetric.
• Ptosis surgery requires caution because orbicularis weakness can lead to exposure keratopathy.
• The most dangerous systemic manifestations are cardiac conduction abnormalities and respiratory failure.
• Genetic testing for DMPK in DM1 or CNBP in DM2 confirms the diagnosis.
• Any patient undergoing ocular surgery requires careful preoperative assessment because myotonic dystrophy carries a significant anesthetic and cardiopulmonary risk.

Ophthalmology – Myopic Degeneration

Basics

Description

Myopic degeneration, also called pathologic myopia or degenerative myopia, refers to progressive structural changes of the posterior segment associated with excessive axial elongation.

It can cause mild to profound central visual loss through:

• Macular atrophy
• Chorioretinal degeneration
• Lacquer cracks
• Macular hemorrhage
• Myopic choroidal neovascularization (CNV)
• Posterior staphyloma
• Myopic traction maculopathy
• Retinal detachment

Unlike ordinary refractive myopia, pathologic myopia involves progressive degenerative changes of the sclera, choroid, RPE, Bruch membrane, and retina.

Classification of Myopia

Myopia has historically been divided into:

• Simple myopia
• Congenital myopia
• Degenerative/pathologic myopia

Simple and congenital myopia do not necessarily develop the characteristic posterior degenerative changes of pathologic myopia.

Epidemiology

Myopia commonly begins during:

• Childhood
• School years
• Adolescence

In patients who develop pathologic myopia, refractive error and axial length may continue increasing well beyond adolescence.

Degenerative macular changes can begin in:

• Young adulthood
• Middle age

and may progress throughout life.

Prevalence

The prevalence of myopia varies greatly according to:

• Age
• Ethnicity
• Geographic region
• Educational exposure
• Environmental factors

Pathologic myopia is considerably less common than simple myopia but represents an important cause of irreversible visual impairment worldwide.

Risk Factors

Major risk factors include:

• High axial myopia
• Long axial length
• Progressive myopia
• Posterior staphyloma
• Increasing age
• Existing lacquer cracks
• Patchy chorioretinal atrophy
• Previous myopic CNV in the fellow eye

Genetics

Myopia is genetically complex and generally multifactorial.

Both genetic and environmental factors contribute.

Pathologic myopia does not usually follow a simple single-gene inheritance pattern, although familial clustering is common and rare monogenic forms exist.

Pathophysiology

The fundamental process is progressive axial elongation of the globe, particularly at the posterior pole.

This produces mechanical stretching and thinning of multiple ocular layers.

Scleral Changes

The posterior sclera may become:

• Thin
• Ectatic
• Structurally weakened

Progressive posterior bulging can produce:

Posterior staphyloma

which is a hallmark of pathologic myopia.

Choroidal Changes

The choroid becomes markedly thinned.

Changes include:

• Attenuation of the choriocapillaris
• Reduction of choroidal melanocytes
• Increased visibility of large choroidal vessels
• Progressive choroidal atrophy

RPE Changes

The retinal pigment epithelium becomes:

• Stretched
• Thinned
• Irregular
• Atrophic

Loss of RPE and choroidal pigmentation contributes to the classic tessellated or tigroid fundus.

Bruch Membrane Changes

Bruch membrane may undergo:

• Thinning
• Splitting
• Mechanical rupture

Linear ruptures are known as:

Lacquer cracks

These are important because they indicate severe biomechanical stress and are associated with an increased risk of myopic CNV.

Etiology

The exact cause of the degenerative process is multifactorial.

A major mechanism is thought to be:

Progressive biomechanical stretching from excessive axial elongation

leading to thinning and disruption of:

• Sclera
• Choroid
• RPE
• Bruch membrane
• Retina

Commonly Associated Conditions

High myopia may also occur in association with:

• Prematurity
• Retinopathy of prematurity
• Connective-tissue disorders
• Certain inherited retinal disorders

Premature infants may develop substantial myopia even without retinopathy of prematurity.

Diagnosis

Diagnosis is based on:

• Refractive status
• Axial length
• Characteristic fundus changes
• Multimodal imaging

History

Patients may have:

• Longstanding high myopia
• Progressive refractive change
• Gradual reduction in central vision

A patient with high myopia who develops:

• Sudden visual loss
• New metamorphopsia
• New central scotoma

should be evaluated urgently for myopic CNV or macular hemorrhage.

Ophthalmic Features

Posterior Staphyloma

A posterior staphyloma is a localized outpouching of the posterior ocular wall.

It can contribute to:

• Progressive macular distortion
• Chorioretinal atrophy
• Myopic traction maculopathy
• Macular hole
• Retinal detachment

Optic Disc Changes

Typical findings include:

• Tilted optic disc
• Oval configuration
• Peripapillary atrophy
• Temporal myopic crescent
• Disc torsion

Glaucoma evaluation can be difficult in highly myopic eyes because of altered optic-disc anatomy.

Tessellated Fundus

Thinning of the RPE and choroid makes the underlying large choroidal vessels more visible.

This produces the classic:

Tessellated or tigroid fundus

appearance.

Chorioretinal Atrophy

Progressive atrophy can appear as sharply demarcated pale areas.

It may begin as:

• Diffuse chorioretinal atrophy
• Patchy atrophy

Over time, lesions may:

• Enlarge
• Coalesce
• Involve the fovea

Foveal atrophy can cause severe irreversible central visual loss.

Lacquer Cracks

Lacquer cracks are:

Linear breaks in Bruch membrane caused by mechanical stretching.

They appear as:

• Fine yellow-white lines
• Irregular linear lesions
• Occasionally stellate lesions

They are important markers of advanced pathologic myopia.

Macular Hemorrhage

Hemorrhage may occur when a lacquer crack develops.

A hemorrhage can occur:

• Without CNV
• After relatively minor trauma
• Spontaneously

Therefore, not every macular hemorrhage in a highly myopic eye represents CNV.

Choroidal Neovascularization

Myopic CNV is one of the most important vision-threatening complications.

Clinical findings may include:

• Subretinal hemorrhage
• Gray or dark subretinal lesion
• Subretinal fluid
• Intraretinal fluid
• RPE elevation
• Sudden metamorphopsia
• Central scotoma

Fuchs Spot

After myopic CNV regresses, it may leave a pigmented fibrotic macular scar known historically as a:

Fuchs spot

This can produce permanent central visual impairment.

Myopic Maculopathy

Modern descriptions of pathologic myopia often classify macular disease according to increasing severity of:

• Tessellation
• Diffuse chorioretinal atrophy
• Patchy atrophy
• Macular atrophy

Additional “plus” lesions include:

• Lacquer cracks
• Myopic CNV
• Fuchs spot

Myopic Traction Maculopathy

Highly myopic eyes are also prone to tractional complications, including:

• Epiretinal membrane
• Vitreomacular traction
• Foveoschisis
• Retinoschisis
• Foveal detachment
• Lamellar macular hole
• Full-thickness macular hole
• Macular hole retinal detachment

These complications are particularly common in eyes with posterior staphyloma.

Peripheral Retinal Changes

High myopia is associated with increased risk of:

• Lattice degeneration
• Retinal tears
• Peripheral retinal thinning
• Rhegmatogenous retinal detachment

A careful peripheral retinal examination is therefore important.

Diagnostic Testing

Optical Coherence Tomography

OCT is essential in evaluating pathologic myopia.

It can detect:

• Myopic CNV
• Subretinal fluid
• Intraretinal fluid
• Foveoschisis
• Retinoschisis
• Macular hole
• Tractional changes
• Atrophy
• Epiretinal membranes

Serial OCT is extremely useful for treatment monitoring.

Fluorescein Angiography

Fluorescein angiography can help distinguish:

• Myopic CNV
• Simple macular hemorrhage from lacquer crack
• Areas of chorioretinal atrophy

Active CNV typically demonstrates leakage.

OCT Angiography

OCT angiography can noninvasively demonstrate abnormal neovascular networks and may be useful for:

• Detecting CNV
• Monitoring vascular activity
• Follow-up after treatment

It should be interpreted alongside structural OCT and the clinical examination.

Fundus Photography

Useful for documenting:

• Atrophy
• Lacquer cracks
• Hemorrhage
• Pigmentation
• Progressive macular changes

Axial Length Measurement

Biometry may help document:

• Excessive axial length
• Progression of axial elongation

Differential Diagnosis

Conditions that may mimic or coexist with myopic macular changes include:

• Age-related macular degeneration
• Central serous chorioretinopathy
• Inflammatory CNV
• Ocular histoplasmosis-related CNV
• Angioid streaks
• Macular dystrophy
• Traumatic choroidal rupture

Treatment

There is no treatment that reverses the underlying structural elongation once pathologic changes are established.

Management is directed toward:

• Refractive correction
• Treatment of CNV
• Management of tractional complications
• Retinal detachment treatment
• Low-vision rehabilitation

Refractive Correction

Options include:

• Spectacles
• Contact lenses

Contact lenses can provide improved optical quality in very high myopia because they reduce:

• Image minification
• Peripheral distortion

Myopic CNV Treatment

Anti-VEGF Therapy

Intravitreal anti-VEGF therapy is the current first-line treatment for myopic CNV.

Agents may include:

• Ranibizumab
• Aflibercept
• Bevacizumab

Treatment often requires fewer injections than neovascular age-related macular degeneration, although follow-up remains essential.

Historical Treatments for CNV

Older approaches included:

• Thermal laser photocoagulation
• Photodynamic therapy

These are now much less commonly used because anti-VEGF therapy generally provides better outcomes with less collateral retinal damage.

Laser treatment is particularly problematic near the fovea because scars may enlarge over time in highly myopic eyes.

Myopic Traction Maculopathy Treatment

Surgery may be considered for progressive or visually significant:

• Foveoschisis
• Macular hole
• Foveal detachment
• Vitreomacular traction
• Macular hole retinal detachment

Options may include:

• Pars plana vitrectomy
• Internal limiting membrane techniques
• Gas tamponade
• Macular buckle in selected complex cases

Management should be individualized by a vitreoretinal specialist.

Retinal Detachment

Retinal detachment may require:

• Pars plana vitrectomy
• Scleral buckle
• Pneumatic retinopexy in selected cases
• Combined procedures

Highly myopic eyes may present additional surgical challenges because of:

• Thin sclera
• Posterior staphyloma
• Long axial length
• Macular hole-associated detachment

Low-Vision Support

Patients with irreversible macular damage may benefit from:

• Magnification devices
• Electronic visual aids
• High-contrast reading material
• Lighting optimization
• Low-vision rehabilitation

Follow-Up

Patients with pathologic myopia require regular ophthalmic surveillance.

Follow-up should assess:

• Visual acuity
• Refraction
• Macula
• Optic disc
• Peripheral retina
• CNV activity
• Progressive atrophy
• Tractional macular changes

Patient Education

Patients at risk of CNV should monitor each eye separately.

They should seek prompt review for:

• New metamorphopsia
• New central blur
• New central scotoma
• Sudden reduction in vision

An Amsler grid can be used for home monitoring.

Retinal Detachment Education

Patients should also be educated about symptoms of retinal tear or detachment:

• Sudden increase in floaters
• Flashing lights
• Curtain or shadow in the visual field
• Sudden peripheral field loss

These symptoms require urgent ophthalmic assessment.

Prognosis

Visual prognosis depends on:

• Degree of posterior staphyloma
• Extent of macular atrophy
• Development of CNV
• Tractional macular disease
• Retinal detachment

Patients with progressive staphyloma and increasing macular atrophy have a guarded long-term prognosis.

The risk of vision loss generally increases with age.

Complications

Major complications include:

• Myopic CNV
• Macular hemorrhage
• Fuchs spot
• Chorioretinal atrophy
• Macular atrophy
• Myopic foveoschisis
• Macular hole
• Macular hole retinal detachment
• Rhegmatogenous retinal detachment
• Epiretinal membrane
• Glaucoma
• Progressive irreversible central visual loss

Ophthalmology Pearls

• Pathologic myopia is more than refractive error—it is a structural degenerative disease of the posterior eye.
• Progressive axial elongation causes thinning of the sclera, choroid, RPE, Bruch membrane, and retina.
• Posterior staphyloma is a hallmark of advanced disease.
• Lacquer cracks are breaks in Bruch membrane and increase the risk of myopic CNV.
• Sudden metamorphopsia or central vision loss in a highly myopic patient should raise immediate concern for CNV.
• A macular hemorrhage in high myopia can occur from a lacquer crack without CNV.
• Anti-VEGF therapy is first-line treatment for myopic CNV.
• OCT is essential for detecting both neovascular and tractional complications.
• High myopia increases the risk of retinal tears and retinal detachment, so the peripheral retina must also be examined carefully.
• Long-term surveillance is important because macular atrophy and other degenerative changes may continue to progress throughout life.

Ophthalmology – Myelinated Nerve Fibers

Basics

Description

Myelinated retinal nerve fibers, also called medullated nerve fibers, are congenital areas of abnormal myelination of the retinal nerve fiber layer.

They appear ophthalmoscopically as:

• White, opaque, striated patches
• Usually adjacent to the superior or inferior margins of the optic disc
• Lesions with feathery or frayed borders that follow the orientation of normal retinal nerve fibers
• Partial obscuration of retinal vessels passing beneath the myelinated layer

Occasionally:

• Islands or slits of normal retina are visible within the lesion
• The myelination is discontinuous from the optic disc
• Rare acquired cases have been described after infancy or in adulthood, with trauma reported in some of these cases

Epidemiology

Myelinated nerve fibers occur in approximately:

1% of the general population

They are usually discovered incidentally during routine fundus examination.

Genetics

Most cases are sporadic.

Rare familial cases with an autosomal dominant inheritance pattern have been reported.

Myelinated nerve fibers have also been described in association with certain syndromes, including:

• Gorlin syndrome
• Rare inherited vitreoretinal dystrophy syndromes with extensive bilateral retinal nerve fiber myelination

One reported autosomal dominant vitreoretinopathy includes:

• Extensive bilateral retinal nerve fiber myelination
• Severe myopia
• Congenitally reduced vision
• Vitreous degeneration
• Retinal dystrophy
• Night blindness
• Reduced electroretinographic responses
• Limb abnormalities

Pathophysiology

Normally, retinal ganglion cell axons become myelinated posterior to the lamina cribrosa.

Myelination is produced by oligodendrocytes.

During normal fetal development:

• Myelination progresses anteriorly from the lateral geniculate region
• It normally stops at the lamina cribrosa
• Oligodendrocytes usually do not enter the retina

In myelinated nerve fibers, oligodendrocytes extend beyond the lamina cribrosa into the retinal nerve fiber layer.

Proposed Mechanisms

Possible developmental explanations include:

• Abnormality or defect in the lamina cribrosa
• Delayed formation of the lamina cribrosa
• Relatively large scleral canal with fewer axons, permitting oligodendrocytes to migrate anteriorly
• Abnormal persistence of access for oligodendrocytes into the retina

Etiology

The condition is usually congenital.

It represents retinal ganglion cell axons that have abnormally acquired a myelin sheath anterior to the lamina cribrosa.

Rare acquired cases have been described, particularly after:

• Ocular trauma
• Other optic nerve or retinal abnormalities

Commonly Associated Conditions

Myelinated nerve fibers may be associated with:

• High myopia
• Amblyopia
• Strabismus
• Tilted disc syndrome
• Anterior segment dysgenesis
• Rare craniofacial abnormalities

A classic association is the triad of:

• Extensive unilateral myelinated retinal nerve fibers
• High myopia
• Amblyopia

Gorlin Syndrome Association

Rarely, myelinated nerve fibers have been described with Gorlin syndrome, which may include:

• Multiple basal cell carcinomas or nevi
• Jaw cysts
• Skeletal abnormalities
• Increased risk of medulloblastoma in childhood

This association is uncommon.

Neurofibromatosis Type 2

A possible association with neurofibromatosis type 2 has been reported, although this remains debated.

Diagnosis

Diagnosis is usually made clinically on fundus examination.

History

Most patients are asymptomatic.

Possible historical findings include:

• Reduced vision in one eye
• Strabismus
• High myopia
• Amblyopia
• Rare history of trauma in acquired cases

Physical Examination

A complete ophthalmic examination should include:

• Visual acuity
• Cycloplegic refraction when appropriate
• Pupillary examination
• Ocular alignment
• Dilated fundus examination

Special attention should be paid to:

• Degree of myopia
• Presence of anisometropia
• Amblyopia
• Strabismus
• Extent of myelination

Fundus Appearance

Typical findings include:

• Bright white or gray-white patches
• Striated appearance
• Feathery borders
• Distribution along the retinal nerve fiber layer
• Frequently extending from the optic disc
• Retinal vessels partially hidden by the superficial myelinated fibers

Approximately a minority of cases may show lesions that are not directly contiguous with the optic disc.

Optical Coherence Tomography

OCT can be helpful.

It may demonstrate:

• Thickened retinal nerve fiber layer
• Increased reflectivity in the region of myelination
• Shadowing of deeper retinal structures

OCT can also help evaluate associated optic nerve or macular abnormalities.

Neuroimaging

Routine neuroimaging is generally not required for isolated myelinated retinal nerve fibers.

Imaging may be considered if:

• A systemic syndrome is suspected
• Neurologic abnormalities are present
• Gorlin syndrome is suspected
• The appearance is atypical

Differential Diagnosis

Important differential diagnoses include:

• Cotton-wool spots
• Hard exudates
• Retinal gliosis
• Chorioretinal scars
• Tilted disc syndrome
• Other congenital white retinal lesions

Myelinated Nerve Fibers vs Cotton-Wool Spots

Myelinated fibers:

• Follow the nerve fiber layer
• Have feathery, striated margins
• Are usually stable over time
• Commonly arise adjacent to the optic disc

Cotton-wool spots:

• Represent retinal ischemia
• Are acquired
• Usually resolve over weeks
• Are associated with vascular or systemic disease

Treatment

There is no treatment for the myelination itself.

Management is directed toward associated visual problems.

Refractive Correction

Significant refractive error should be corrected as early as possible.

This is particularly important in children with:

• High myopia
• Anisometropia
• Astigmatism

Amblyopia Therapy

Amblyopia should be treated when present.

Treatment may include:

• Full optical correction
• Patching
• Penalization

Historically, amblyopia associated with extensive myelinated nerve fibers and high myopia was believed to respond poorly.

However, some patients can achieve meaningful improvement with appropriately timed amblyopia therapy.

Strabismus

Strabismus should be managed according to:

• Visual potential
• Angle of deviation
• Binocular function
• Cosmetic considerations

Surgery may be considered when indicated.

Referral

Referral may be appropriate to:

• Pediatric ophthalmology for amblyopia or strabismus
• Medical genetics if a syndromic association is suspected
• Dermatology if findings suggest Gorlin syndrome

Ongoing Care

Follow-Up

Follow-up is usually determined by associated problems rather than the myelinated fibers themselves.

Children should be monitored for:

• Refractive change
• Amblyopia
• Strabismus
• Visual development

Patient Education

Patients and families should understand that:

• Myelinated nerve fibers are usually benign
• The retinal appearance itself generally does not require treatment
• Vision problems are usually due to associated:
• Myopia
• Anisometropia
• Amblyopia
• Strabismus

Early treatment of amblyopia is important.

Prognosis

The retinal myelination itself is generally stable and benign.

Visual prognosis depends mainly on associated:

• High myopia
• Amblyopia
• Strabismus
• Other ocular abnormalities

Some patients with substantial myelination and severe anisometropic myopia may have limited visual potential.

Regression or Disappearance

Rarely, previously visible myelinated nerve fibers have been reported to diminish or disappear after severe damage to retinal ganglion cell axons or the optic nerve.

Reported settings include:

• Optic atrophy
• Glaucoma
• Central retinal artery occlusion
• Optic neuritis
• Compressive optic neuropathy

Loss of the white myelinated appearance in these settings reflects axonal loss rather than improvement.

Complications

Potential associated complications include:

• Amblyopia
• High myopia
• Anisometropia
• Strabismus
• Reduced visual acuity

Ophthalmology Pearls

• Myelinated retinal nerve fibers appear as white, feathery, striated patches following the retinal nerve fiber layer.
• They commonly arise adjacent to the optic disc and can partially obscure retinal vessels.
• The condition is usually congenital and benign.
• Think of the classic association: myelinated nerve fibers + high myopia + amblyopia.
• The lesion itself requires no treatment.
• In children, the priority is early detection and treatment of refractive error and amblyopia.
• OCT may show a thick, highly reflective retinal nerve fiber layer with posterior shadowing.
• Do not confuse stable congenital myelination with acquired cotton-wool spots.
• Rare disappearance of myelination can occur after severe optic nerve or retinal ganglion cell injury.

Ophthalmology – Myasthenia Gravis

Basics

Description

Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by painless, fluctuating, fatigable skeletal-muscle weakness.

The most commonly affected muscles are the extraocular and eyelid muscles, so ophthalmic manifestations are frequently the first sign of disease.

Typical manifestations include:

• Ptosis
• Diplopia
• Variable ophthalmoplegia
• Orbicularis weakness
• Bulbar weakness
• Limb weakness
• Respiratory muscle weakness in severe disease

A characteristic feature is that weakness:

• Worsens with repeated or prolonged muscle use
• Often worsens later in the day
• Improves after rest
• Can vary considerably from one examination to another

Sensation and pupillary function remain normal.

⸻

Clinical Forms

Ocular Myasthenia Gravis

In ocular MG, weakness remains limited to:

• Eyelids
• Extraocular muscles

Patients typically develop:

• Ptosis
• Diplopia
• Variable ocular misalignment

⸻

Generalized Myasthenia Gravis

Generalized disease can involve:

• Ocular muscles
• Bulbar muscles
• Facial muscles
• Neck muscles
• Limb muscles
• Respiratory muscles

Ocular manifestations often precede generalized disease.

⸻

Serologic Forms

MG can also be categorized according to circulating antibodies.

AChR-Antibody Positive MG

Antibodies are directed against the acetylcholine receptor (AChR) on the postsynaptic membrane.

This is the most common form.

MuSK-Antibody Positive MG

Antibodies are directed against muscle-specific receptor tyrosine kinase (MuSK).

These patients are more likely to have prominent:

• Bulbar weakness
• Facial weakness
• Neck weakness
• Respiratory involvement

Pure ocular presentations are uncommon.

Seronegative MG

Some patients have no detectable conventional AChR or MuSK antibodies despite a compatible clinical syndrome.

Additional antibodies such as LRP4 may be detectable in a subset.

⸻

Epidemiology

MG may occur at any age.

A broadly bimodal pattern is recognized.

Earlier-Onset Disease

Usually affects younger adults and is more common in women.

Later-Onset Disease

Usually affects older adults and has a greater male predominance.

The prevalence has increased over time, probably because of:

• Better recognition
• Improved diagnostic testing
• Greater survival

⸻

Risk Factors and Exacerbating Factors

Factors that can worsen myasthenic weakness include:

• Infection
• Fever
• Emotional or physical stress
• Heat
• Sleep deprivation
• Pregnancy
• Menstruation
• Thyroid dysfunction
• Certain medications

Patients should be reviewed carefully for drugs capable of worsening neuromuscular transmission.

⸻

Genetics

MG is not usually inherited in a simple Mendelian fashion.

However:

• Autoimmune susceptibility may cluster in families.
• Relatives of affected individuals have an increased risk of autoimmune disease and MG.
• Congenital myasthenic syndromes are distinct inherited disorders and should not be confused with autoimmune MG.

⸻

Neonatal Myasthenia

Approximately a minority of infants born to mothers with autoimmune MG may develop transient neonatal myasthenia due to transplacental passage of maternal antibodies.

Symptoms may include:

• Poor suck
• Weak cry
• Generalized hypotonia
• Respiratory weakness

The condition usually resolves as maternal antibodies disappear.

⸻

General Prevention

There is no proven method to prevent autoimmune MG.

However, exacerbations may sometimes be reduced by:

• Prompt treatment of infection
• Avoidance of medications known to impair neuromuscular transmission
• Maintaining appropriate vaccinations
• Careful perioperative planning
• Appropriate management during pregnancy

⸻

Drugs That May Worsen MG

Important medications that can exacerbate weakness include selected:

• Aminoglycoside antibiotics
• Fluoroquinolones
• Macrolides
• Magnesium
• Neuromuscular blocking agents
• Beta-blockers
• Some antiarrhythmics

Penicillamine can induce an MG-like autoimmune syndrome.

Medication risks are not absolute in every patient, but potentially aggravating agents should be used carefully.

⸻

Pathophysiology

Normal neuromuscular transmission depends on acetylcholine released from the presynaptic nerve terminal binding to acetylcholine receptors on the postsynaptic muscle membrane.

In autoimmune MG, antibodies interfere with this process.

⸻

AChR Antibodies

Anti-AChR antibodies cause:

• Functional blockade of acetylcholine receptors
• Receptor internalization and degradation
• Complement-mediated postsynaptic membrane injury

This causes simplification of the postsynaptic folds and reduces the safety margin of neuromuscular transmission.

With repetitive stimulation, transmission increasingly fails, producing fatigable weakness.

⸻

MuSK Antibodies

MuSK is important in organizing and maintaining acetylcholine receptors at the neuromuscular junction.

MuSK autoantibodies disrupt receptor clustering and neuromuscular transmission.

⸻

Thymus and Myasthenia Gravis

The thymus plays an important role, particularly in AChR-antibody positive MG.

Abnormalities include:

• Thymic lymphoid hyperplasia
• Germinal-center formation
• Thymoma

Approximately 10–15% of MG patients have a thymoma.

Conversely, a significant proportion of patients with thymoma develop MG.

⸻

Associated Conditions

MG is associated with other autoimmune disorders, particularly:

• Autoimmune thyroid disease
• Rheumatoid disease
• Systemic lupus erythematosus
• Pernicious anemia

Thyroid disease is especially relevant in patients with ocular symptoms because thyroid eye disease can mimic ocular MG.

⸻

Diagnosis

History

Typical complaints include:

• Drooping eyelid
• Intermittent diplopia
• Worsening symptoms late in the day
• Increasing symptoms after reading or prolonged visual effort
• Difficulty chewing
• Difficulty swallowing
• Nasal or weak voice
• Choking during meals
• Liquids regurgitating through the nose
• Limb weakness
• Neck weakness

Respiratory weakness can occur and represents a potentially life-threatening complication.

Sensory symptoms are not characteristic of MG.

⸻

Ophthalmic Examination

Ptosis

Ptosis may be:

• Unilateral
• Bilateral
• Asymmetric
• Alternating
• Highly variable

Fatigability may be demonstrated by asking the patient to maintain prolonged upgaze.

The eyelid may gradually descend.

⸻

Cogan Lid Twitch

After sustained downgaze, the patient rapidly returns the eyes to primary gaze.

The upper lid may:

1. Overshoot upward
2. Briefly retract
3. Then fall into ptosis

This is called Cogan’s lid twitch and supports the diagnosis of ocular MG.

⸻

Frontalis Compensation

Patients may compensate for ptosis by:

• Raising the eyebrows
• Contracting the frontalis
• Adopting a chin-up posture

⸻

Ice-Pack Test

Cooling improves neuromuscular transmission.

For ptosis:

• Ice is placed over the closed eyelid for several minutes.
• Improvement in ptosis supports MG.

An improvement of approximately 2 mm or more is generally considered strongly suggestive in the appropriate clinical context.

The test is particularly useful because it is:

• Rapid
• Noninvasive
• Inexpensive

⸻

Ocular Motility Findings

MG can mimic almost any ocular motility disorder.

Findings may include:

• Variable ophthalmoparesis
• Changing patterns of strabismus
• Horizontal diplopia
• Vertical diplopia
• Oblique diplopia
• Isolated-appearing muscle weakness
• Apparent cranial nerve palsies

A major clue is variability.

⸻

Pseudo-Internuclear Ophthalmoplegia

Medial rectus weakness can produce an apparent internuclear ophthalmoplegia-like pattern.

Unlike a true brainstem INO:

• The lesion is at the neuromuscular junction rather than the MLF.
• Other variable muscle weakness may be present.
• Ptosis frequently supports MG.
• Pupils remain normal.

⸻

Pupils

The pupils are not affected in myasthenia gravis.

Pupillary abnormalities should suggest another diagnosis.

This is an important examination pearl.

⸻

Orbicularis Oculi Weakness

The examiner may be able to open the patient’s forcibly closed eyelids relatively easily.

A peek sign may occur:

• The patient initially closes the eyes completely.
• The eyelids then slowly separate because of orbicularis weakness.

⸻

Other Examination Findings

Generalized MG may produce weakness of:

• Facial muscles
• Jaw closure
• Palatal muscles
• Tongue
• Neck flexors
• Proximal limb muscles

Deep tendon reflexes and sensation are generally preserved.

⸻

Diagnostic Tests

Acetylcholine Receptor Antibodies

Testing commonly includes:

• AChR-binding antibodies
• AChR-blocking antibodies
• AChR-modulating antibodies

Binding antibody testing is usually the initial test.

Sensitivity is substantially higher in generalized MG than in purely ocular MG.

A positive result is highly supportive of the diagnosis.

⸻

MuSK Antibodies

MuSK antibody testing is particularly useful when:

• Generalized MG is suspected
• AChR antibodies are negative
• Bulbar or respiratory weakness is prominent

MuSK-positive disease is uncommon in isolated ocular MG.

⸻

Additional Antibody Testing

In appropriate seronegative patients, additional testing may include antibodies against:

• LRP4
• Other neuromuscular-junction targets

Availability varies.

⸻

Thyroid Testing

Because autoimmune thyroid disease can coexist with MG and thyroid eye disease can mimic ocular MG, testing may include:

• TSH
• Free T4
• Thyroid antibodies when indicated

⸻

Imaging

Chest CT or MRI

Patients with confirmed MG should generally be evaluated for thymoma using imaging of the anterior mediastinum.

CT is commonly used.

⸻

Neurophysiologic Testing

Repetitive Nerve Stimulation

Repetitive nerve stimulation may demonstrate a decremental response.

It is more useful in generalized disease than isolated ocular disease.

⸻

Single-Fiber EMG

Single-fiber electromyography is highly sensitive for abnormal neuromuscular transmission.

It may be especially useful when:

• Antibody testing is negative
• Clinical suspicion remains high

It is sensitive but not completely specific for MG.

⸻

Edrophonium Testing

Historically, intravenous edrophonium (Tensilon) was used to demonstrate transient improvement of ptosis or ophthalmoplegia.

Because of:

• Bradycardia
• Syncope
• Bronchospasm
• Other cholinergic adverse effects

and the availability of safer antibody and electrophysiologic testing, it is now rarely used.

⸻

Differential Diagnosis

Ocular MG Mimics

Important differential diagnoses include:

• Thyroid eye disease
• Cranial nerve III palsy
• Cranial nerve IV palsy
• Cranial nerve VI palsy
• Internuclear ophthalmoplegia
• Chronic progressive external ophthalmoplegia
• Mitochondrial myopathy
• Myotonic dystrophy
• Fisher syndrome
• Orbital disease
• Decompensated strabismus

⸻

Generalized MG Mimics

Consider:

• Lambert–Eaton myasthenic syndrome
• Botulism
• Amyotrophic lateral sclerosis
• Motor neuropathies
• Inflammatory myopathies
• Congenital myasthenic syndromes

⸻

Myasthenia vs Lambert–Eaton Syndrome

MG typically causes:

• Ocular and bulbar weakness
• Worsening with repetitive activity
• Normal or preserved reflexes

Lambert–Eaton syndrome more commonly causes:

• Proximal limb weakness
• Autonomic symptoms
• Reduced reflexes
• Strength that may transiently improve with activity

⸻

Treatment

Treatment depends on:

• Ocular versus generalized disease
• Degree of functional impairment
• Antibody status
• Bulbar or respiratory involvement
• Presence of thymoma
• Patient age
• Associated illnesses

⸻

Medication

Acetylcholinesterase Inhibitors

Pyridostigmine

Pyridostigmine (Mestinon) is the principal symptomatic treatment.

It increases the amount of acetylcholine available at the neuromuscular junction.

It may improve:

• Ptosis
• General muscle strength
• Bulbar symptoms

Its effect on ophthalmoplegia can be less reliable.

Common cholinergic adverse effects include:

• Abdominal cramping
• Diarrhea
• Excessive salivation
• Sweating
• Lacrimation

Dose is individualized according to response and adverse effects.

⸻

Corticosteroids

Corticosteroids may be used when symptomatic treatment is inadequate.

They are particularly useful for:

• Persistent ptosis
• Ophthalmoplegia
• Generalized disease

Prednisone is commonly used.

Treatment usually requires:

• Gradual titration
• Close monitoring
• Slow tapering once disease is controlled

Higher initial doses can occasionally transiently worsen weakness, so treatment strategy should be individualized by a clinician experienced in MG.

⸻

Steroid-Sparing Immunotherapy

When prolonged immunosuppression is required, options may include:

• Azathioprine
• Mycophenolate mofetil
• Tacrolimus
• Cyclosporine
• Methotrexate in selected cases

Monitoring depends on the medication and may include:

• CBC
• Liver function
• Renal function

⸻

Biologic and Targeted Therapy

For selected generalized or refractory MG, modern therapies can include targeted immunologic agents directed against:

• B cells
• Complement
• Neonatal Fc receptor pathways

These are generally managed by neuromuscular specialists.

⸻

Ophthalmic Symptomatic Treatment

Diplopia

Temporary measures include:

• Occlusion of one eye
• Translucent tape over one spectacle lens
• Eye patch

Prisms can help when deviation becomes sufficiently stable, but MG-related ocular misalignment is often too variable for prism correction to remain effective.

⸻

Ptosis

Mechanical ptosis crutches are occasionally used but are often poorly tolerated.

Definitive eyelid surgery should generally be avoided until:

• Disease is stable
• The degree of ptosis has remained consistent
• Medical treatment has been optimized

⸻

Thymectomy

Thymoma

A thymoma generally requires surgical management, usually with:

• Thymectomy
• Additional oncologic treatment when indicated

⸻

MG Without Thymoma

Thymectomy can benefit selected patients with generalized AChR-antibody positive MG, particularly younger adults.

It can reduce:

• Disease severity
• Steroid requirements
• Exacerbations

Its role in purely ocular MG is much less established.

⸻

Myasthenic Crisis

Alert

Difficulty breathing or swallowing in a patient with MG is a medical emergency.

A myasthenic crisis is severe worsening resulting in:

• Respiratory insufficiency
• Bulbar failure
• Inability to protect the airway

Patients may require:

• Intensive care
• Respiratory monitoring
• Mechanical ventilation

⸻

Acute Immunomodulatory Treatment

For severe exacerbations or myasthenic crisis:

• Intravenous immunoglobulin (IVIG)
• Plasma exchange

can produce relatively rapid improvement.

These are also used before surgery or during severe deterioration in selected patients.

⸻

Cholinergic Crisis

Excessive acetylcholinesterase inhibitor use can rarely produce excessive cholinergic activity.

Features may include:

• Weakness
• Salivation
• Diarrhea
• Sweating
• Miosis
• Bradycardia

It should be distinguished from worsening MG.

⸻

In-Patient Considerations

Admission may be required for:

• Myasthenic crisis
• Significant dysphagia
• Respiratory weakness
• Severe infection
• Rapidly progressive generalized weakness
• Plasma exchange
• IVIG

Respiratory parameters should be monitored carefully in patients with generalized deterioration.

⸻

Anesthetic Considerations

Patients with MG may be extremely sensitive to neuromuscular blocking medications.

Anesthesiologists must be informed of the diagnosis before surgery.

Perioperative medication management requires individualized planning.

⸻

Issues for Referral

Patients with confirmed or strongly suspected MG should be managed jointly with a:

Neurologist or neuromuscular specialist

because:

• Ocular disease can generalize
• Respiratory complications can occur
• Immunosuppressive therapy requires monitoring
• Thymic evaluation may be necessary

Neuro-ophthalmology referral is useful for complex ocular presentations.

⸻

Ongoing Care

Follow-Up

Patients should be monitored for:

• Change in ptosis
• Ocular motility
• Diplopia
• Development of bulbar symptoms
• Limb weakness
• Breathing difficulty
• Medication adverse effects

Patients initially presenting with ocular disease should be asked specifically about emerging systemic symptoms.

⸻

Prognosis

The course is variable.

Many patients initially present with ocular symptoms.

When ocular MG generalizes, this most commonly occurs during the first few years after onset, especially early in the disease course.

With modern therapy:

• Most patients achieve substantial disease control.
• Permanent remission without treatment is uncommon.
• Mortality is low when respiratory crises are rapidly recognized and appropriately managed.

⸻

Complications

The most important complication is:

Myasthenic Crisis

This is a neurologic emergency characterized by severe respiratory and/or bulbar weakness.

Management may require:

• ICU admission
• Airway support
• Mechanical ventilation
• IVIG
• Plasma exchange
• Treatment of precipitating infection or other trigger

Other complications arise from:

• Aspiration
• Infection
• Long-term corticosteroid treatment
• Chronic immunosuppression
• Thymoma

⸻

Ophthalmology Pearls

• Fluctuating ptosis + variable diplopia + normal pupils = think myasthenia gravis.
• MG can imitate almost any pattern of ocular motor palsy.
• Ocular findings may change during the same examination.
• Sustained upgaze can bring out fatigable ptosis.
• Cogan lid twitch is a useful bedside clue.
• The ice-pack test is a simple, useful test for myasthenic ptosis.
• Pupils are spared—pupillary involvement points away from MG.
• Medial rectus weakness can mimic an INO, producing a pseudo-INO.
• Orbicularis weakness and the peek sign are helpful supportive findings.
• AChR antibodies are less sensitive in isolated ocular MG than in generalized MG.
• Single-fiber EMG can help when antibody studies are negative.
• Evaluate confirmed MG for thymoma.
• New dysphagia, choking, weak cough, or dyspnea may represent impending myasthenic crisis and requires urgent assessment.

Ophthalmology – Multifocal Choroiditis / Punctate Inner Choroiditis

Basics

Description

Multifocal choroiditis (MFC) and punctate inner choroiditis (PIC) are inflammatory disorders affecting the choroid and outer retina.

Multifocal choroiditis with panuveitis is characterized by:

• Multiple active choroidal or chorioretinal lesions
• Vitreitis
• Frequently anterior uveitis
• Recurrent episodes of intraocular inflammation
• Risk of choroidal neovascularization and permanent chorioretinal scarring

Punctate inner choroiditis is closely related but typically:

• Occurs in young myopic women
• Produces small inflammatory lesions predominantly in the posterior pole
• Has little or no anterior chamber inflammation or vitreitis
• Frequently causes photopsias and central/paracentral scotomas

A related severe phenotype is diffuse subretinal fibrosis (DSF), in which inflammatory lesions coalesce and produce extensive subretinal fibrosis.

Etiology

The exact cause of MFC and PIC remains unknown.

They are believed to represent immune-mediated inflammatory chorioretinal disorders.

Possible mechanisms include:

• Abnormal autoimmune response against ocular antigens
• Molecular mimicry after exposure to an infectious or viral antigen
• Genetic susceptibility combined with an environmental trigger

MFC, PIC, and diffuse subretinal fibrosis may represent different manifestations along a common inflammatory disease spectrum.

Epidemiology

Multifocal Choroiditis

Typically affects:

• Young to middle-aged adults
• Women more often than men
• Commonly patients in the third to fourth decades of life

Punctate Inner Choroiditis

Classically occurs in:

• Young women
• Frequently myopic patients
• Otherwise healthy individuals

Both disorders may be bilateral, although disease activity may be markedly asymmetric.

History

Patients with MFC are usually otherwise healthy.

Some report a preceding:

• Viral-like illness
• Upper respiratory infection
• Nonspecific systemic prodrome

Common ocular complaints include:

• Blurred or decreased vision
• Floaters
• Photopsias
• Scotomas
• Peripheral visual field loss
• Metamorphopsia
• Distorted central vision

Symptoms may develop gradually.

Although patients may notice symptoms in only one eye initially, bilateral involvement is common.

Punctate Inner Choroiditis Symptoms

Patients with PIC commonly report:

• Photopsias
• Central or paracentral scotomas
• Metamorphopsia
• Blurred central vision

Because PIC often lacks significant anterior chamber or vitreous inflammation, the eye may appear externally quiet.

Physical Examination

Multifocal Choroiditis

Typical examination findings include:

• Vitreitis in most patients
• Anterior chamber inflammation in approximately half of cases
• Multiple yellow-white choroidal or chorioretinal lesions
• Pigmented borders around older lesions
• Chorioretinal scars in healed disease

The lesions:

• Are usually approximately 50–300 μm
• May occur throughout the posterior pole and peripheral fundus
• Represent focal inflammatory involvement of the choroid and outer retina

Older lesions often become:

• Punched-out
• Atrophic
• Pigmented

Punctate Inner Choroiditis

PIC lesions are generally:

• Small
• Yellow-white
• Located at the posterior pole
• Often at the level of the inner choroid/RPE/outer retina

Unlike classic MFC:

• Vitreitis is typically absent or minimal
• Anterior uveitis is generally absent

This distinction is clinically useful.

Diffuse Subretinal Fibrosis

In severe disease, multiple inflammatory lesions may coalesce, producing:

• Broad zones of subretinal fibrosis
• Macular distortion
• Extensive photoreceptor and RPE damage
• Severe irreversible visual loss

This phenotype is referred to as diffuse subretinal fibrosis syndrome.

Diagnostic Tests & Interpretation

Laboratory Evaluation

There is no specific laboratory test that confirms MFC or PIC.

Testing is primarily directed at excluding infectious and systemic inflammatory mimickers.

Depending on history, examination, and geographic exposure, investigations may include:

• Syphilis serology
• Tuberculosis testing
• Sarcoidosis evaluation
• Toxoplasmosis testing
• Lyme disease testing when epidemiologically appropriate

Before initiating systemic immunosuppression, baseline investigations commonly include:

• Complete blood count
• Liver function tests
• Renal function tests
• Screening for latent infection according to the proposed immunomodulatory agent

Imaging

Fundus Photography

Color and red-free fundus photography are useful for:

• Baseline documentation
• Assessing lesion distribution
• Comparing active versus healed lesions
• Monitoring progression or recurrence
• Documenting scar formation

Fluorescein Angiography

Fluorescein angiography (FA) is useful for identifying:

• Clinically inapparent lesions
• Active inflammatory lesions
• Choroidal neovascularization
• Cystoid macular edema
• Vascular leakage

Active lesions

Typically demonstrate:

• Early hypofluorescence from blockage
• Progressive hyperfluorescence or staining in later phases

Inactive lesions

May demonstrate:

• Window defects from RPE atrophy
• Late staining
• Persistent hypofluorescence if choriocapillaris loss is severe

Optical Coherence Tomography

OCT is essential for evaluating the macula.

It can demonstrate:

• Disruption of the outer retinal layers
• Photoreceptor loss
• RPE changes
• Subretinal fluid
• Intraretinal fluid
• Cystoid macular edema
• Choroidal neovascular membrane
• Fibrotic scar formation

Serial OCT is extremely useful for monitoring:

• Disease activity
• Treatment response
• Development of CNV
• Resolution of macular edema

OCT in PIC

Modern spectral-domain OCT may demonstrate focal abnormalities involving:

• RPE
• Ellipsoid zone
• Outer nuclear layer
• Choroid

Active lesions may protrude through or disrupt the RPE and outer retina before evolving into atrophic scars.

Indocyanine Green Angiography

Indocyanine green angiography may demonstrate more extensive choroidal involvement than is clinically visible.

It can show:

• Multiple hypofluorescent choroidal spots
• Areas of occult inflammatory activity

It may be particularly useful when the clinical diagnosis is uncertain.

Fundus Autofluorescence

Fundus autofluorescence can assist in demonstrating:

• Active RPE stress
• Areas of RPE loss
• Subclinical lesions
• Progression of chorioretinal atrophy

Hyperautofluorescent borders may indicate active or stressed RPE, whereas established atrophy generally becomes hypoautofluorescent.

Visual Field Testing

Visual field testing may show:

• Paracentral scotomas
• Peripheral field defects
• Enlarged blind spot

Visual field defects do not always correspond directly to currently active choroidal lesions.

Follow-Up During Active Disease

During active inflammation, patients may require examination every:

1–4 weeks

depending on:

• Severity
• Macular involvement
• Degree of vitreous inflammation
• Presence of CNV
• Treatment being used

Choroidal Neovascularization

One of the most important complications of both MFC and PIC is:

Choroidal neovascularization (CNV)

It may develop:

• Beneath the macula
• Adjacent to active inflammatory lesions
• In old scars
• In the peripapillary region
• Even after active inflammation has subsided

Patients should be educated to recognize:

• New metamorphopsia
• New central scotoma
• Sudden reduction in central vision

Amsler Grid

Home Amsler grid monitoring may help identify:

• New distortion
• New central scotoma
• Blurring
• Possible development of CNV

Any new change warrants prompt examination.

Differential Diagnosis

Important differential diagnoses include:

• Ocular syphilis
• Tuberculosis
• Toxoplasmosis
• Presumed ocular histoplasmosis syndrome
• Sarcoidosis
• Central serous chorioretinopathy
• Age-related macular degeneration
• Choroidal neovascularization from other causes
• Ocular trauma
• Acute posterior multifocal placoid pigment epitheliopathy
• Multiple evanescent white dot syndrome
• Birdshot chorioretinopathy
• Vogt–Koyanagi–Harada disease
• Intraocular lymphoma in atypical cases

Treatment

Treatment is determined by:

• Degree of active inflammation
• Laterality
• Macular involvement
• Presence of CNV
• Recurrence frequency
• Degree of structural damage

Medication

First Line

For significant posterior inflammation, topical corticosteroids alone are generally inadequate.

Treatment may include:

• Systemic corticosteroids
• Periocular corticosteroid injection
• Intravitreal corticosteroid therapy in selected cases

Topical corticosteroids may still be useful when there is significant anterior uveitis.

Important Precaution

Infectious causes must be excluded before starting corticosteroids or systemic immunosuppressive therapy.

Immunosuppression of an undiagnosed infectious posterior uveitis may result in severe disease progression.

Systemic Corticosteroids

Oral corticosteroids may be useful for:

• Bilateral disease
• Severe posterior inflammation
• Vision-threatening macular involvement
• Extensive active lesions

Long-term systemic corticosteroid therapy should generally be avoided when a steroid-sparing treatment strategy is appropriate.

Second-Line Therapy

Systemic immunomodulatory therapy may be indicated when:

• Disease is recurrent
• Inflammation is chronic
• Corticosteroid dependence develops
• Disease is bilateral and vision-threatening
• Corticosteroid toxicity is problematic

Potential steroid-sparing agents include, depending on the patient:

• Methotrexate
• Mycophenolate mofetil
• Azathioprine
• Cyclosporine
• Tacrolimus
• Selected biologic agents in refractory disease

These treatments require appropriate systemic monitoring.

Pregnancy Considerations

Many immunomodulatory drugs may:

• Be teratogenic
• Affect fetal development
• Require discontinuation before conception

Treatment in pregnancy should therefore be coordinated with:

• Uveitis specialist
• Obstetrician
• Rheumatologist or other prescribing specialist

Choroidal Neovascularization Treatment

Modern treatment for inflammatory CNV generally centers on:

Intravitreal anti-VEGF therapy

Examples include:

• Bevacizumab
• Ranibizumab
• Aflibercept

Treatment of underlying inflammatory activity may also be necessary.

Historically used treatments include:

• Photodynamic therapy
• Thermal laser photocoagulation in selected extrafoveal lesions

These are used much less commonly than anti-VEGF therapy for macular CNV.

Cystoid Macular Edema

CME may respond to:

• Periocular corticosteroid
• Intravitreal corticosteroid
• Systemic anti-inflammatory therapy

Anti-VEGF treatment may occasionally be used depending on the mechanism and associated pathology.

Issues for Referral

Because posterior uveitis has numerous infectious and inflammatory mimickers and can cause permanent vision loss, patients should generally be managed by or referred to a:

Uveitis specialist

Additional referral may be needed to:

• Retina specialist for CNV, macular edema, or structural complications
• Rheumatology for systemic immunomodulatory therapy
• Infectious disease when an infectious cause is suspected

Surgery / Other Procedures

Cataract Surgery

Chronic inflammation and corticosteroid treatment may cause cataract.

Cataract surgery can be considered when:

• Cataract is visually significant
• Inflammation has been well controlled
• The eye has been appropriately quiet before surgery

Perioperative anti-inflammatory therapy is often required.

Steroid Implants

Sustained-release intraocular corticosteroid implants may be considered in selected cases of:

• Chronic posterior uveitis
• Recurrent disease
• Inadequate response to other therapy

Potential complications include:

• Cataract
• Ocular hypertension
• Glaucoma

Vitrectomy

Pars plana vitrectomy may be considered for:

• Visually significant vitreous opacities
• Diagnostic uncertainty
• Suspected intraocular lymphoma or infection
• Selected structural complications

Diagnostic vitreous sampling may be particularly important in atypical presentations.

Ongoing Care

Long-term follow-up is important because disease may recur after prolonged periods of inactivity.

Monitoring should include:

• Visual acuity
• Slit-lamp examination
• Vitreous inflammation
• Dilated fundus examination
• OCT
• Assessment for CNV
• Intraocular pressure
• Cataract development

Patient Education

Patients should be advised to seek prompt review for:

• New photopsias
• New floaters
• New scotoma
• Metamorphopsia
• Sudden or progressive central visual loss

Home Amsler grid monitoring can be useful.

Prognosis

MFC and PIC often follow a chronic or relapsing course lasting months to years.

Visual prognosis depends primarily on:

• Macular involvement
• Recurrent inflammation
• Development of CNV
• Cystoid macular edema
• Photoreceptor loss
• Extent of chorioretinal scarring
• Diffuse subretinal fibrosis

Patients without foveal involvement may maintain good central vision.

Repeated macular inflammation, CNV, or extensive fibrosis can result in severe permanent visual impairment.

Complications

Important complications include:

• Choroidal neovascularization
• Cystoid macular edema
• Subretinal fibrosis
• Chorioretinal atrophy
• Photoreceptor loss
• Cataract
• Ocular hypertension
• Glaucoma
• Steroid-related complications
• Permanent central visual loss

CNV may occur even when there is no clinically active inflammation, making long-term surveillance essential.

Ophthalmology Pearls

• MFC = multifocal choroidal lesions + vitreitis ± anterior uveitis.
• PIC = young myopic women + posterior pole punctate lesions + little or no vitreitis.
• The two disorders likely belong to a related inflammatory spectrum.
• CNV is one of the most important causes of visual loss and may develop even after inflammation appears inactive.
• OCT is indispensable for distinguishing inflammatory damage from treatable complications such as CNV, CME, or subretinal fluid.
• Before immunosuppression, exclude important infectious mimickers—particularly syphilis and tuberculosis.
• Anti-VEGF therapy is the main contemporary treatment for inflammatory CNV.
• Recurrent disease can lead to extensive subretinal fibrosis and irreversible visual loss.
• Long-term, often lifelong ophthalmic surveillance is appropriate because recurrence and CNV can occur after apparently quiet intervals.