Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy.

Abstract excerpt

We have investigated 107 patients from 79 families with Leber's hereditary optic neuropathy (LHON), defined by the presence of one of the mitochondrial DNA (mtDNA) mutations at positions 11778 (60 families), 3460 (7), or 14484 (12). Only about 60% of the index patients had a history of similarly affected relatives. The ratios of affected male:female patients were 2.5:1 (11778), 2:1 (3460), and 5.7:1 (14484)....

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