Other terms
Leber Hereditary Optic Neuropathy,Leber Optic Atrophy,Optic Atrophy, Leber,Leber Optic Atrophy and Dystonia,Optic Atrophy, Leber Type,Leber's Hereditary Optic Neuropathy,Leber's Optic Atrophy,Lebers Optic Atrophy,Optic Atrophy, Leber's,Optic Atrophy, Leber, Hereditary,Leber's Disease,Disease, Leber's,Diseases, Leber's,Leber Disease,Leber's Diseases,Lebers Disease,Leber Hereditary Optic Atrophy,Leber's Hereditary Optic Atrophy
Description
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, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
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