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Diseases

Genetic and Rare Diseases Information Center (GARD)

Leber hereditary optic neuropathy


Other Names for this Disease
  • Leber’s disease
  • Optic atrophy, Leber type
  • Leber optic atrophy
  • LHON
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have "LHON plus", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family.[1] Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment.[2] 
Last updated: 6/14/2016

References

  1. Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy.
  2. Yu-Wai-Man P & Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1174/.
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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.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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’s disease
  • Optic atrophy, Leber type
  • Leber optic atrophy
  • LHON
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.