Leber congenital amaurosis in a young female

Leber congenital amaurosis is a rare congenital disorder caused by a mutation in any of several different genes that causes rod-cone dystrophy and may eventually lead to blindness. Characteristic findings on fundoscopic examination include retinal pigment migration and macular atrophy. Confirmation can be obtained using electroretinograms and the specific gene can be identified with genetic testing. No treatment is available, but multiple clinical trials are underway.
Source: Journal of the American Academy of Physician Assistants - Category: Primary Care Tags: Case Report Source Type: research