Congenital amaurosis of Leber.
In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.
Gillespie
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D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D004585:Electrooculography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009887:Ophthalmoscopy; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012160:Retina / Q000473:pathology