A study was made of a family in which members of 4 generations were affected by the hypertrophic type of Charcot Marie Tooth disease. The diagnosis was confirmed by electrophysiologic studies and by sural nerve biopsy. Ten members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of 2 to 6 mth. The history of visual failure, its maternal inheritance, and the neuro ophthalmologic findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. Two 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.
|Original language||English (US)|
|Number of pages||3|
|Journal||Proceedings of the Australian Association of Neurologists|
|State||Published - Jan 1 1975|
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