title: Leber's congenital amaurosis as conceived by Leber.
abstract: Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000266:history / Q000473:pathology; D003937:Diagnosis, Differential; D049672:History, 19th Century; D006801:Humans; D012164:Retinal Diseases / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome