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))
Lebers optikusatrofi
Leber Hereditary Optic Atrophy — Leber Hereditary Optic Neuropathy — Leber Optic Atrophy — Optic Atrophy, Leber — Leber Optic Atrophy and Dystonia — Leber's Disease — Disease, Leber's — Diseases, Leber's — Leber Disease — Leber's Diseases — Lebers Disease — Leber's Hereditary Optic Neuropathy — Leber's Optic Atrophy — Leber's Optic Neuropathy — Leber Optic Neuropathy — Lebers Optic Neuropathy — Neuropathy, Leber's Optic — Optic Neuropathy, Leber's — Optic Atrophy, Leber Type — Optic Atrophy, Leber, Hereditary — Hereditary Optic Neuroretinopathy — Hereditary Optic Neuroretinopathies — Neuroretinopathies, Hereditary Optic — Neuroretinopathy, Hereditary Optic — Optic Neuroretinopathies, Hereditary — Optic Neuroretinopathy, Hereditary — Leber's Hereditary Optic Atrophy