Leber hereditary optic neuropathy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Leber’s disease; Optic atrophy, Leber type; Leber optic atrophy;
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
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
- Blurring and clouding of vision (usually the first symptoms) affecting the central visual field
- Severe loss of visual acuity (sharpness of vision) and color vision over time
- Loss of ability to complete visual tasks such as reading, driving, and recognizing faces
- A growing, dense central scotoma (blind spot) seen during visual field testing
- Development of optic atrophy
Most people with LHON eventually qualify for registration as legally blind.
In rare cases, additional symptoms may include heart arrhythmias; neurologic abnormalities (e.g., tremor,
A significant proportion of people with a
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Mitochondrial respiratory chain defects||0200125|
|Slow decrease in visual acuity||
Slow decrease in sharpness of vision
|30%-79% of people have these symptoms|
Central blind spot
Damaged optic nerve
|Retinal vascular tortuosity||0012841|
|5%-29% of people have these symptoms|
Muscle tissue disease
|Percent of people who have these symptoms is not available through HPO|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
[ more ]
|Central retinal vessel vascular tortuosity||0007768|
|Leber optic atrophy||0001112|
Peripheral nerve disease
Loss of vision
[ more ]
The genes related to Leber hereditary optic neuropathy each provide instructions for making a
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
High-dose oral idebenone may be considered as a treatment option, especially for individuals with LHON with relatively recent disease onset. Some studies have reported a benefit from using idebenone with quinone analogues, such as ubiquinone (Coenzyme Q10) and with vitamin C and vitamin B12.
In an open-label study of five individuals with acute LHON treated within 90 days of disease onset, the antioxidant α-tocotrienol-quinone (EPI-743), a vitamin E derivative, showed good results.
Those with established LHON
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
International Foundation for Optic Nerve Disease (IFOND)
PO Box 777
Cornwall, NY 12518
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2013; https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy.
- Yu-Wai-Man P & Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/books/NBK1174/.
- Patrick Yu-Wai-Man, Patrick F Chinnery. Leber Hereditary Optic Neuropathy. GeneReviews. June 23, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1174/.