Symptoms and Signs - ​Differential Diagnosis of Blindness, Pediatric Age
CONGENITAL
• Optic nerve hypoplasia or aplasia
• Optic coloboma
• Congenital hydrocephalus
• Hydranencephaly
• Porencephaly
• Microencephaly
• Encephalocele, particularly occipital type
• Morning glory disc
• Aniridia
• Anterior microphthalmia
• Peters’ anomaly
• Persistent pupillary membrane
• Glaucoma
• Cataracts
• Persistent hyperplastic primary vitreous
PHAKOMATOSES
• Tuberous sclerosis
• Neurofibromatosis (special association with optic glioma)
• Sturge-Weber syndrome
• von Hippel–Lindau disease
TUMORS
• Retinoblastoma
• Optic glioma
• Perioptic meningioma
• Craniopharyngioma
• Cerebral glioma
• Posterior and intraventricular tumors when complicated by hydrocephalus
• Pseudotumor cerebri
NEURODEGENERATIVE DISEASES
• Cerebral storage disease
• Gangliosidoses, particularly Tay-Sachs disease (infantile amaurotic familial idiocy), Sandhoff’s variant, generalized gangliosidosis
• Other lipidoses and ceroid lipofuscinoses, particularly the lateonset amaurotic familial idiocies, such as those of Jansky- Bielschowsky disease and of Batten-Mayou disease and
Spielmeyer-Vogt disease
• Mucopolysaccharidoses, particularly Hurler’s syndrome and
Hunter’s syndrome
• Leukodystrophies (dysmyelination disorders), particularly
metachromatic leukodystrophy and Canavan’s disease
• Demyelinating sclerosis (myelinoclastic diseases), especially
Schilder’s disease and Devic’s neuromyelitis optica
• Special types: Dawson’s disease, Leigh disease, Bassen-Kornzweig
syndrome, Refsum’s disease
• Retinal degenerations: retinitis pigmentosa and its variants,
Leber’s congenital type
• Optic atrophies: congenital autosomal recessive type, infantile and
congenital autosomal dominant types, Leber’s disease, and
atrophies associated with hereditary ataxias—the types of Behr, of
Marie, and of Sanger Brown
INFECTIOUS PROCESSES
• Encephalitis, especially in the prenatal infection syndromes caused
by Toxoplasma gondii, cytomegalovirus, rubella virus, Treponema
pallidum, herpes simplex
• Meningitis, arachnoiditis
• Chorioretinitis
• Endophthalmitis
• Keratitis
HEMATOLOGIC DISORDERS
• Leukemia with CNS involvement
VASCULAR AND CIRCULATORY DISORDERS
• Collagen-vascular diseases
• Arteriovenous malformations—intracerebral hemorrhage,
subarachnoid hemorrhage
• Central retinal occlusion
TRAUMA
• Contusion or avulsion of optic nerves, chiasm, globe, cornea
• Cerebral contusion or laceration
• Intracerebral, subarachnoid, or subdural hemorrhage
DRUGS/TOXINS
OTHER
• Retinopathy of prematurity
• Sclerocornea
• Conversion reaction
• Optic neuritis
• Osteopetrosis