Dominant optic atrophy

How is dominant optic atrophy inherited?

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. There are likely to be other genetic and environmental factors that influence whether a person with a mutation will develop features of DOA.

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.

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

Last updated on 05-01-20

How might dominant optic atrophy be treated?

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.

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. 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.

Last updated on 05-01-20

Name: Prevent Blindness America 211 West Wacker Drive, Suite 1700
Chicago, IL, 60606 , United States
Toll Free: 800-331-2020 Email: info@preventblindness.org Url: http://www.preventblindness.org/
Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201
Pittsburgh, PA, 15239 , United States
Phone: +1-412-793-8077 Toll Free: 1-888-317-8633 Fax : +1-412-793-6477 Email: info@umdf.org Url: https://www.umdf.org
Name: American Foundation for the Blind 1401 South Clark Street Suite 730
Arlington, VA, 22202, United States
Phone: 212-502-7600 Toll Free: 800-232-5463 Fax : 888-545-8331 Email: http://www.afb.org/sendMail.asp Url: http://www.afb.org/
Name: Autosomal Dominant Optic Atrophy Association 94 Bethel Court
Port Matilda, PA, 16870,
Phone: 570-419-8799 Email: lindsey.allen@adoaa.org Url: http://www.adoaa.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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