Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case.
The case of a patient with Charcot-Marie-Tooth disease who developed the acute fundus findings of Leber's optic neuropathy is described. Previous reports have proposed a genetic interrelationship between the two diseases. This relationship has been speculative, however, because the acute fundus findings of Leber's have never been observed in a case of Charcot-Marie-Tooth disease. This case adds support for a suggested genetic relationship between the two diseases. It is also possible that the optic atrophy previously described in Charcot-Marie-Tooth may represent the late findings of Leber's optic neuropathy.
D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications*; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics*; D012607:Scotoma / Q000235:genetics; D013577:Syndrome