National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Leber hereditary optic neuropathy

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Other Names:
Leber’s disease; Optic atrophy, Leber type; Leber optic atrophy; Leber’s disease; Optic atrophy, Leber type; Leber optic atrophy; LHON See More
Categories:
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: 3/13/2017
Leber hereditary optic neuropathy (LHON) is characterized by bilateral, painless, and almost sudden vision failure that develops in young adulthood (around 20 to 30 years of age). About 95% of affected people lose their vision before age 50. It is more common in males. Signs and symptoms include:[1][3]
  • 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.[3]

In rare cases, additional symptoms may include heart arrhythmias; neurologic abnormalities (e.g., tremor, peripheral neuropathy, movement disorders); and features similar to those seen in multiple sclerosis.[1][3]

A significant proportion of people with a mutation known to cause LHON do not develop any features. Specifically, more than 50% of males with a mutation and more than 85% of females with a mutation never experience vision loss or related medical problems.[1]
Last updated: 3/13/2017

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Mitochondrial respiratory chain defects 0200125
Slow decrease in visual acuity
Slow decrease in sharpness of vision
0007924
30%-79% of people have these symptoms
Blurred vision 0000622
Central scotoma
Central blind spot
0000603
Centrocecal scotoma 0000576
Optic atrophy 0000648
Optic neuropathy
Damaged optic nerve
0001138
Retinal telangiectasia 0007763
Retinal vascular tortuosity 0012841
5%-29% of people have these symptoms
Ataxia 0001251
Myopathy
Muscle tissue disease
0003198
Peripheral neuropathy 0009830
Postural tremor 0002174
Ventricular preexcitation 0004309
Percent of people who have these symptoms is not available through HPO
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Central retinal vessel vascular tortuosity 0007768
Dystonia 0001332
Incomplete penetrance 0003829
Leber optic atrophy 0001112
Mitochondrial inheritance 0001427
Polyneuropathy
Peripheral nerve disease
0001271
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
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Last updated: 7/1/2020
Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA).[1]

The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy.[1] Please visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.
Last updated: 3/13/2017
Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children.[1]

Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.[1]
Last updated: 3/13/2017

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.

Testing Resources

  • 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.
Currently, there is no cure for this disease but there are several ongoing studies aiming to find an effective treatment. Management of affected individuals is usually supportive, with provision of visual aids.[2]

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.[2]

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.[2]

Those with established LHON mitochondrial DNA mutations are advised not to smoke and to limit their alcohol intake. People with Leber hereditary optic neuropathy may also find it helpful to speak with other affected individuals and to seek extra psychosocial or counseling support.[2]
Last updated: 12/29/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Leber hereditary optic neuropathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leber hereditary optic neuropathy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Leber hereditary optic neuropathy:
    My Retina Tracker®
     

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.

Organizations Supporting this Disease

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.

Where to Start

In-Depth Information

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are people with Lebers hereditary optic neuropathy partially blind for a long period of time or does their condition progress to permanent blindness? Do all people with this condition become permanently blind? Is this condition genetic? Is it more likely to be passed on by a male or female? Is there anyway to prevent LHON with certain vitamins or foods? Are there any surgical treatments available to alter this condition or is it permanent for life? See answer


  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/.
  3. Patrick Yu-Wai-Man, Patrick F Chinnery. Leber Hereditary Optic Neuropathy. GeneReviews. June 23, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1174/.