Optic Atrophy, Hereditary, Leber
"Optic Atrophy, Hereditary, Leber" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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))
| Descriptor ID |
D029242
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| MeSH 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
|
| Concept/Terms |
Optic Atrophy, Hereditary, Leber- Optic Atrophy, Hereditary, Leber
- 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
|
Below are MeSH descriptors whose meaning is more general than "Optic Atrophy, Hereditary, Leber".
- Diseases [C]
- Nervous System Diseases [C10]
- Cranial Nerve Diseases [C10.292]
- Optic Nerve Diseases [C10.292.700]
- Optic Atrophy [C10.292.700.225]
- Optic Atrophies, Hereditary [C10.292.700.225.500]
- Optic Atrophy, Hereditary, Leber [C10.292.700.225.500.400]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Optic Atrophies, Hereditary [C10.574.500.662]
- Optic Atrophy, Hereditary, Leber [C10.574.500.662.400]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Optic Atrophies, Hereditary [C11.270.564]
- Optic Atrophy, Hereditary, Leber [C11.270.564.400]
- Optic Nerve Diseases [C11.640]
- Optic Atrophy [C11.640.451]
- Optic Atrophies, Hereditary [C11.640.451.451]
- Optic Atrophy, Hereditary, Leber [C11.640.451.451.400]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Optic Atrophies, Hereditary [C16.320.290.564]
- Optic Atrophy, Hereditary, Leber [C16.320.290.564.400]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Optic Atrophies, Hereditary [C16.320.400.630]
- Optic Atrophy, Hereditary, Leber [C16.320.400.630.400]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Mitochondrial Diseases [C18.452.660]
- Optic Atrophy, Hereditary, Leber [C18.452.660.670]
Below are MeSH descriptors whose meaning is more specific than "Optic Atrophy, Hereditary, Leber".
This graph shows the total number of publications written about "Optic Atrophy, Hereditary, Leber" by people in this website by year, and whether "Optic Atrophy, Hereditary, Leber" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Optic Atrophy, Hereditary, Leber" by people in Profiles.
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You're too old for that. Surv Ophthalmol. 2008 Jul-Aug; 53(4):403-10.
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Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65. FEBS Lett. 2006 Jul 24; 580(17):4200-4.