Optic Atrophy, Autosomal Dominant
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.
Year introduced: 2002
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Tree 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
MeSH Unique ID: D029241
Entry Terms:
- 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
- Kjer's Optic Atrophy
- Atrophy, Kjer's Optic
- Kjer Optic Atrophy
- Kjers Optic Atrophy
- Optic Atrophy, Kjer's
- Autosomal Dominant Optic Atrophy
- 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 Type 1
- Optic Atrophy 1
- Optic Atrophy 1s
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