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Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. 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). These cases may be referred to as 'DOA plus.' 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.
Source: GARD Last updated on 05-01-20
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
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
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