Diseases

Autosomal Dominant Optic Atrophy

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001

MeSH Record

Previous Indexing

  • Optic Atrophy (1971-2001)
  • Optic Atrophy, Hereditary (1989-2001)

MeSH Hierarchy

Tree Numbers

  1. C10w.292w.700w.225.500.100
  2. C10w.574w.500.662.100
  3. C11w.270.564.100
  4. C11w.640w.451.451.100
  5. C16w.320w.290.564.100
  6. C16w.320w.400.630.100
  7. C18.452w.660w.665

AMA Style

References

  1. National Library of Medicine. Autosomal Dominant Optic Atrophy. Medical Subject Headings (MeSH). 2026. Unique ID D029241. http://id.nlm.nih.gov/mesh/2026/D029241
  2. Autosomal Dominant Optic Atrophy. In: Wikidata. https://www.wikidata.org/wiki/Q29982071