Leber hereditary optic neuropathy
Other Names for this Disease
- Leber’s disease
- Optic atrophy, Leber type
- Leber optic atrophy
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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. Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment.Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss.
Last updated: 6/14/2016
- Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy.
- Yu-Wai-Man P & Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1174/.
- Genetics Home Reference (GHR) contains information on Leber hereditary optic neuropathy. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.