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Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Optic Atrophy, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Eye Diseases > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Eye Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
... > Nervous System Diseases > Cranial Nerve Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant

Preferred term

Optic Atrophy, Autosomal Dominant  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Atrophies, Juvenile Optic
  • Atrophies, Kjer-Type Optic
  • Atrophy, Juvenile Optic
  • Atrophy, Kjer's Optic
  • Atrophy, Kjer-Type Optic
  • Autosomal Dominant Optic Atrophy
  • Autosomal Dominant Optic Atrophy Kjer Type
  • Dominant Optic Atrophies
  • Dominant Optic Atrophy
  • Juvenile Optic Atrophies
  • Juvenile Optic Atrophy
  • Kjer Optic Atrophy
  • Kjer's Optic Atrophy
  • Kjers Optic Atrophy
  • Kjer-Type Optic Atrophies
  • Kjer Type Optic Atrophy
  • Kjer-Type Optic Atrophy
  • Optic Atrophies, Dominant
  • Optic Atrophies, Juvenile
  • Optic Atrophies, Kjer-Type
  • Optic Atrophy 1
  • Optic Atrophy 1s
  • Optic Atrophy, Dominant
  • Optic Atrophy, Hereditary, Autosomal Dominant
  • Optic Atrophy, Juvenile
  • Optic Atrophy, Kjer's
  • Optic Atrophy, Kjer Type
  • Optic Atrophy, Kjer-Type
  • Optic Atrophy Type 1

Scope note

  • 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.

History note

  • 2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001

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URI

http://www.yso.fi/onto/mesh/D029241

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