Optic Atrophy, Hereditary, Leber

**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))

**Tree numbers:** - C10.292.700.225.500.400 - C10.574.500.662.400 - C11.270.564.400 - C11.640.451.451.400 - C16.320.290.564.400 - C16.320.400.630.400 - C18.452.660.670

**Synonyms:** - Leber Optic Atrophy and Dystonia - Leber's Disease - Leber's Hereditary Optic Atrophy - Leber's Hereditary Optic Neuropathy - Leber's Optic Atrophy - Leber's Optic Neuropathy - Optic Atrophy, Leber Type - Optic Atrophy, Leber, Hereditary - Hereditary Optic Neuroretinopathy - Leber Hereditary Optic Atrophy - Leber Optic Atrophy - Leber Hereditary Optic Neuropathy