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))
Year introduced: 2002
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Tree Number(s): 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
MeSH Unique ID: D029242
Entry Terms:
- Leber Optic Atrophy and Dystonia
- Leber's Disease
- Disease, Leber's
- Diseases, Leber's
- Leber Disease
- Lebers Disease
- Leber's Diseases
- Leber's Hereditary Optic Atrophy
- 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 Hereditary Optic Atrophy
- Leber Optic Atrophy
- Optic Atrophy, Leber
- Leber Hereditary Optic Neuropathy
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