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Optic Atrophy, Hereditary, Leber

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Definition: 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))      Other names Optic Atrophy, Leber's; Optic Atrophy, Leber; Lebers Optic Atrophy; Lebers Disease; Leber's Diseases; Leber Disease; Diseases, Leber's; Disease, Leber's; Optic Atrophy, Leber, Hereditary; Optic Atrophy, Leber Type; Leber's Optic Atrophy; Leber's Hereditary Optic Neuropathy; Leber's Hereditary Optic Atrophy; Leber's Disease; Leber Optic Atrophy and Dystonia; Leber Hereditary Optic Neuropathy; Leber Optic Atrophy; Leber Hereditary Optic Atrophy
 
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Marsden syndrome  0   *Optic Atrophy, Hereditary, Leber.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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