: MeSH: Optic Atrophy, Hereditary, Leber

Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Optic Atrophy, Hereditary, Leber

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Eye Diseases > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

... > Cranial Nerve Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Eye Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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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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