Macular colobomas in Leber's congenital amaurosis.
Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.
D000328:Adult; D001766:Blindness / Q000151:congenital*; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities / Q000473:pathology; D008297:Male; D013577:Syndrome; D014792:Visual Acuity