Diseases

Hereditary Leber Optic Atrophy

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

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Classification

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MeSH Record

Synonyms

28 entry terms
  • Hereditary Optic Neuroretinopathy
  • Leber Hereditary Optic Atrophy
  • Leber Hereditary Optic Neuropathy
  • Leber Optic Atrophy
  • Leber Optic Atrophy and Dystonia
  • Leber's Disease
  • Leber's Hereditary Optic Atrophy
  • Leber's Hereditary Optic Neuropathy
  • Leber's Optic Atrophy
  • Leber's Optic Neuropathy
  • Optic Atrophy, Hereditary, Leber
  • Optic Atrophy, Leber Type
  • Optic Atrophy, Leber, Hereditary
  • Disease, Leber's
  • Diseases, Leber's
  • Hereditary Optic Neuroretinopathies
  • Leber Disease
  • Leber Optic Neuropathy
  • Leber's Diseases
  • Lebers Disease
  • Lebers Optic Neuropathy
  • Neuropathy, Leber's Optic
  • Neuroretinopathies, Hereditary Optic
  • Neuroretinopathy, Hereditary Optic
  • Optic Atrophy, Leber
  • Optic Neuropathy, Leber's
  • Optic Neuroretinopathies, Hereditary
  • Optic Neuroretinopathy, Hereditary

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 1999-2001

MeSH Record

Previous Indexing

  • Optic Atrophies, Hereditary (1989-2001)
  • Optic Atrophy/genetics (1977-1988)

MeSH Hierarchy

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AMA Style

References

  1. National Library of Medicine. Hereditary Leber Optic Atrophy. Medical Subject Headings (MeSH). 2026. Unique ID D029242. http://id.nlm.nih.gov/mesh/2026/D029242
  2. Hereditary Leber Optic Atrophy. In: Wikipedia. https://en.wikipedia.org/wiki/Leber%27s_hereditary_optic_neuropathy
  3. Hereditary Leber Optic Atrophy. In: Wikidata. https://www.wikidata.org/wiki/Q1262161