Rare Pediatrics News

Disease Profile

Dominant optic atrophy

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.

1-9 / 100 000

US Estimated

Europe Estimated

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.


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.


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.


Not applicable


Other names (AKA)

Autosomal dominant optic atrophy; DOA; ADOA


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]


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]


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

    Organizations Providing General Support

      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

        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.


            1. 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.
            2. Guy Lenaers et. al. Dominant optic atrophy. Orphanet Journal of Rare Diseases. July 9, 2012; 7(46):https://www.ojrd.com/content/7/1/46.
            3. 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.
            4. 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.

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