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Genetic and Rare Diseases Information Center (GARD)

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Leber hereditary optic neuropathy


Other Names for this Disease

  • Leber optic atrophy
  • Leber’s disease
  • LHON
  • Optic atrophy, Leber type
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Overview

Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.[1]
Last updated: 12/2/2011

References

  1. Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy. Accessed 12/2/2011.
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Basic Information

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leber hereditary optic neuropathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Leber optic atrophy
  • Leber’s disease
  • LHON
  • Optic atrophy, Leber type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.