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

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Epidemiology

These abnormalities are rare.

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

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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.

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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

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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

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Etiology

When isolated, the cause is often unknown.

Possible etiologies include:

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

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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.

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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

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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.

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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

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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.

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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.

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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

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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

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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

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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.

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Systemic Examination

Assess for:

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

These findings may suggest an underlying syndrome.

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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

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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.

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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

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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

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Differential Diagnosis

Important differential diagnoses include:

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

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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.

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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.

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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

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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

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Punctoplasty

Punctoplasty may be considered when:

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

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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.

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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.

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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.

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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

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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

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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.

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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.

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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.

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Patient Monitoring

Monitor for:

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

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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.

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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.

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Complications

The main complications are:

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

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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.