Charcot-Marie-Tooth disease with Leber optic atrophy.
A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D009431:Neural Conduction; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013497:Sural Nerve / Q000648:ultrastructure; D013577:Syndrome