Dominant optic atrophy
Other Names for this Disease
- Autosomal dominant optic atrophy
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 It is usually diagnosed in early childhood due to mild, unexplained visual loss related to optic disc pallor or atrophy, and a family history of DOA. Affected individuals usually develop moderate visual loss and color vision defects. The severity varies; visual acuity can range from normal to legal blindness. About 20% of individuals with DOA have non-ocular signs and symptoms such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). In these individuals, the condition may be referred to as DOA plus. DOA is inherited in an autosomal dominant manner. Mutations in 2 genes (OPA1 and OPA3) are known to cause DOA, and the locations of 3 other genes (loci) have been identified (known as OPA4, OPA5, and OPA8). OPA1 causes the majority of cases. Mutations in the OPA3 gene are rare and are also associated with premature cataracts. There is currently no cure for DOA, but individuals may benefit from low vision aids.Dominant optic atrophy (DOA) is an inherited optic nerve disorder.
Last updated: 11/13/2013
- 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. Accessed 11/13/2013.
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