Dominant optic atrophy

Title

Other Names:

Autosomal dominant optic atrophy; DOA; ADOA

Subtypes:

Autosomal dominant optic atrophy and cataract; Optic atrophy 1; Optic atrophy 5

Summary Summary

Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves.^[1]^[2] It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs).^[2] These cases may be referred to as 'DOA plus.'^[1] DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids.^[2]

Last updated: 12/27/2015

Inheritance Inheritance

Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from a parent. In other cases, the mutation occurs for the first time in an affected person and is not inherited from a parent (a de novo mutation).

When a person with a mutation that causes DOA has children, each child has a 50% (1 in 2) chance to inherit the mutation.

While a mutation responsible for DOA can cause the condition, not all people with a mutation will develop DOA. This means that DOA has reduced penetrance.^[2]^[3] There are likely to be other genetic and environmental factors that influence whether a person with a mutation will develop features of DOA.^[3]

Additionally, not all people who do develop features will be affected the same way, and severity can vary - even within families. This phenomenon is known as variable expressivity.^[2]

People with questions about genetic risks or genetic testing for themselves or family members are encouraged to speak with a genetics professional.

Last updated: 12/27/2015

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Treatment Treatment

There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-vision aids in individuals with severely decreased visual acuity can be helpful.^[2]

A preliminary study published in February 2013 found that several individuals with specific OPA1 mutations who underwent idebenone therapy (which has been used to treat some cases of Leber hereditary optic neuropathy) experienced some improvement of visual function. However, more thorough research is necessary to confirm these findings.^[4] Acupuncture is also being studied as a potential treatment.

Avoiding tobacco and alcohol intake and certain medications (antibiotics, antivirals), which can interfere with mitochondrial metabolism, may help to slow the progression. Cochlear implants have been shown to markedly improve hearing in individuals with sensorineural hearing loss.^[2]

Last updated: 11/13/2013

Research Research

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 Dominant optic atrophy. 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.

Organizations Organizations

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

American Foundation for the Blind
1401 South Clark Street
Suite 730
Arlington, VA 22202
Toll-free: 800-232-5463
Telephone: 212-502-7600
Fax: 888-545-8331
E-mail: http://www.afb.org/sendMail.asp
Website: http://www.afb.org/
Autosomal Dominant Optic Atrophy Association
94 Bethel Court
Port Matilda, PA 16870
Telephone: 570-419-8799
E-mail: lindsey.allen@adoaa.org
Website: http://www.adoaa.org/
National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400
Rockville, MD 20852
Telephone: 240-221-2905
Fax: 240-221-0370
E-mail: jamesj@eyeresearch.org
Website: http://www.eyeresearch.org/
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: info@preventblindness.org
Website: http://www.preventblindness.org/
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 888-317-8633
Telephone: 412-793-8077
Fax: 412-793-6477
E-mail: info@umdf.org
Website: http://www.umdf.org

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Learn More Learn More

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

The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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.
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 Dominant optic atrophy. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

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References References

Patrick Yu-Wai-Man, Patrick F. Chinnery. Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates. Ophthalmology. August, 2013; 117(8):1538-1546.e1. Accessed 11/13/2013.
Guy Lenaers et. al. Dominant optic atrophy. Orphanet Journal of Rare Diseases. July 9, 2012; 7(46):http://www.ojrd.com/content/7/1/46.
Cohn AC et. al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol. April, 2007; 143(4):656-662.
Barboni P. et al. Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain. February 2013; 136(Pt 2):e231. https://www.ncbi.nlm.nih.gov/pubmed/23388408.