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Dictionary » Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

Introduction: Optic Atrophy, Hereditary, Leber

Description of Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man,, MIM#535000 (April 17, 2001)).
Source: MeSH 2007

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