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
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| 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
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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 |
|---|
| 2006 | 1 | 1 | 2 |
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Below are the most recent publications written about "Optic Atrophy, Hereditary, Leber" by people in Profiles.
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Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther. 2006 Aug; 17(8):845-58.
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Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, Cideciyan AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EA, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther. 2006 Jun; 13(6):1074-84.
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Rolling F, Le Meur G, Stieger K, Smith AJ, Weber M, Deschamps JY, Nivard D, Mendes-Madeira A, Provost N, P?r?on Y, Cherel Y, Ali RR, Hamel C, Moullier P, Rolling F. Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Bull Mem Acad R Med Belg. 2006; 161(10-12):497-508; discussion 508-9.