Optic Atrophy, Autosomal Dominant
"Optic Atrophy, Autosomal Dominant" 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.
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
| Descriptor ID |
D029241
|
| MeSH Number(s) |
C10.292.700.225.500.100 C10.574.500.662.100 C11.270.564.100 C11.640.451.451.100 C16.320.290.564.100 C16.320.400.630.100 C18.452.660.665
|
| Concept/Terms |
Optic Atrophy, Autosomal Dominant- Optic Atrophy, Autosomal Dominant
- Dominant Optic Atrophy
- Dominant Optic Atrophies
- Optic Atrophies, Dominant
- Optic Atrophy, Dominant
- Kjer-Type Optic Atrophy
- Atrophies, Kjer-Type Optic
- Atrophy, Kjer-Type Optic
- Kjer-Type Optic Atrophies
- Optic Atrophies, Kjer-Type
- Optic Atrophy, Kjer-Type
- Optic Atrophy 1
- Optic Atrophy 1s
- Kjer's Optic Atrophy
- Atrophy, Kjer's Optic
- Kjer Optic Atrophy
- Kjers Optic Atrophy
- Optic Atrophy, Kjer's
- Optic Atrophy, Hereditary, Autosomal Dominant
- Optic Atrophy, Juvenile
- Atrophies, Juvenile Optic
- Atrophy, Juvenile Optic
- Juvenile Optic Atrophies
- Juvenile Optic Atrophy
- Optic Atrophies, Juvenile
- Optic Atrophy, Kjer Type
- Autosomal Dominant Optic Atrophy Kjer Type
- Kjer Type Optic Atrophy
- Autosomal Dominant Optic Atrophy
- Optic Atrophy Type 1
|
Below are MeSH descriptors whose meaning is more general than "Optic Atrophy, Autosomal Dominant".
- 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, Autosomal Dominant [C10.292.700.225.500.100]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Optic Atrophies, Hereditary [C10.574.500.662]
- Optic Atrophy, Autosomal Dominant [C10.574.500.662.100]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Optic Atrophies, Hereditary [C11.270.564]
- Optic Atrophy, Autosomal Dominant [C11.270.564.100]
- Optic Nerve Diseases [C11.640]
- Optic Atrophy [C11.640.451]
- Optic Atrophies, Hereditary [C11.640.451.451]
- Optic Atrophy, Autosomal Dominant [C11.640.451.451.100]
- 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, Autosomal Dominant [C16.320.290.564.100]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Optic Atrophies, Hereditary [C16.320.400.630]
- Optic Atrophy, Autosomal Dominant [C16.320.400.630.100]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Mitochondrial Diseases [C18.452.660]
- Optic Atrophy, Autosomal Dominant [C18.452.660.665]
Below are MeSH descriptors whose meaning is more specific than "Optic Atrophy, Autosomal Dominant".
This graph shows the total number of publications written about "Optic Atrophy, Autosomal Dominant" by people in this website by year, and whether "Optic Atrophy, Autosomal Dominant" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Optic Atrophy, Autosomal Dominant" by people in Profiles.
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Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Sch?le R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, N?meth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32.
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Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Sch?le R, Z?chner S, Sch?ls L, Wissinger B, Synofzik M. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. 2014 Aug; 137(Pt 8):2164-77.