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.