Optic Atrophy, Autosomal Dominant [autozomálně dominantně dědičná optická atrofie]
- Terms
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atrofie optiku, typ 1
autozomálně dominantně dědičná atrofie optiku
Kjerova atrofie optiku
Kjerova autozomálně dominantní atrofie optiku
nervus opticus - atrofie autozomálně dominantní
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Autosomal Dominant Optic Atrophy
Autosomal Dominant Optic Atrophy Kjer Type
Dominant Optic Atrophy
Kjer Type Optic Atrophy
Kjer-Type Optic Atrophy
Kjer's Optic Atrophy
Optic Atrophy 1
Optic Atrophy Type 1
Optic Atrophy, Hereditary, Autosomal Dominant
Optic Atrophy, Juvenile
Optic Atrophy, Kjer Type
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.
- DUI
- D029241 MeSH Browser
- CUI
- M0333666
- Previous indexing
- Optic Atrophy (1971-2001); Optic Atrophy, Hereditary (1989-2001)
- History note
- 2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001
- Public note
- 2002; see OPTIC ATROPHIES, HEREDITARY 2000-2001
Allowable subheadings
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- DI
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- DH
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- HI
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- SU
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- TH
- therapy 1
- UR
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- VI
- virology 0