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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.
推出的年份: 2002
副标题
树号: 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 单一 ID: D029241
进入的组:
  • 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
早前的内容:
  • Optic Atrophy (1971-2001)
  • Optic Atrophy, Hereditary (1989-2001)

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