All patients described suffered from developmental delay, intellectual disability (intelligence quotient range 48-74) and decreased visual acuity. Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus. Other features of this condition are somewhat variable and include * Facial * Protruding ears * Helical anomalies * Small nasal ridge * High nasal bridge * Upturned nose * Epicanthal folds * Upslanting palpebral fissures * Skeletal * Tapering fingers. * Hypotonia
Bosch-Boonstra-Schaaf optic atrophy syndrome
Leber's hereditary optic neuropathy
Akureyri disease
Alexander disease
Farber disease
Spastic ataxia-corneal dystrophy syndrome
Multiple evanescent white dot syndrome
Leber congenital amaurosis