title: Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.
abstract: Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome