[A review of the molecular mechanism of development of Leber hereditary optic neuropathy].

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally transmitted, bilateral optic neuropathy. Although mitochondrial (mt) DNA mutations are known to be associated with the maternal inheritance, there are few reviews on how they lead to optic neuropathy. In addition, low penetrance and male preponderance cannot be accounted for by mtDNA mutations alone. METHODS: Presumable molecular mechanisms of...

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