Hereditary optic neuropathies

Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.


Aims: To provide a clinical update on the hereditary optic neuropathies.

Methods: Review of the literature.

Results: The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed.

Conclusion: The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Dysautonomia, Familial / complications
  • Dysautonomia, Familial / genetics
  • Female
  • Friedreich Ataxia / complications
  • Friedreich Ataxia / genetics
  • Humans
  • Male
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / genetics
  • Optic Atrophies, Hereditary / physiopathology*
  • Optic Atrophy, Autosomal Dominant / complications
  • Optic Atrophy, Autosomal Dominant / genetics
  • Optic Atrophy, Autosomal Dominant / physiopathology
  • Optic Atrophy, Hereditary, Leber / complications
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / physiopathology
  • Pedigree
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / genetics
  • Vision Disorders / etiology
  • Vision Disorders / genetics
  • Vision Disorders / physiopathology