A family with Charcot-Marie-Tooth disease and Leber's optic atrophy.
A family has been studied in which members of 4 generations were affected by the hypertrophic type of Charcot-Marie-Tooth disease. The diagnosis was confirmed by electrophysiological studies and by sural nerve biopsy. 10 members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of two to six months. The history of visual failure, its maternal inheritance, and the neuro-ophthalmological findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. 2 members of the family suffered from both Charcot-Marie-Tooth disease and Leber's optic atrophy. There have been a few previous reports of optic atrophy associated with Charcot-Marie-Tooth disease, and in the present family both conditions appeared to have been inherited independently.
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics*; D012607:Scotoma / Q000150:complications; D013577:Syndrome