. c-wave of ERG in carriers of Leber congenitalamaurosis

摘要

Leber's congenital amaurosis is a congenital retinal dystrophy characterized by profound visual loss from birth, coarse nystagmus, extinct ERG and the appearance of degenerative and pigmentary changes from the fundus. In a high proportion of the presented cases there is history of parental consanguineous marriage.In 1869, Theodore Leber described a disease which he called a 'pigmentary retinopathy with congenital amaurosis'1. In 1871 he emphasized the familial nature of the disease and the frequency of parental consanquinity2. Later he differentiated congenital and juvenile forms3.