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Leber's hereditary optic neuropathy,a maternally inherited disease primarily of young men,results in bilateral,acute or subacute,central visual loss and,ultimately,optic atrophy.Point mutations in the mitochondrial genes encoding proteins essential to oxidative phosphorylation have been associated with this disorder.Primary mutations include those found at positions 11778,3460,and,possibly,15257 and 14484. Mitochondrial,nuclear,and environmental factors may modify phenotypic expression.Genetic analysis has allowed for a broader view of what constitutes the clinical phenotype of LHON. |
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