Leber hereditary optic atrophy
Definition: degeneration of the optic nerve and papillomacular bundle with resulting loss of central vision and blindness, progressive for several weeks, then usually becoming stationary with permanent central scotoma; the age of onset is variable, most often in the third decade; more males than females are affected. Mitochondrial or cytoplasmic inheritance through the maternal lineage, caused by mutation in the mitochondrial gene(s) acting autonomously or in association with each other.
Synonym(s): Leber optic neuropathy
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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.