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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dominant optic atrophy


Other Names for this Disease
  • Autosomal dominant optic atrophy
  • DOA
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Overview


Dominant optic atrophy (DOA) is an inherited optic nerve disorder.[1] 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.[2] 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).[2] In these individuals, the condition may be referred to as DOA plus.[1] 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).[2] OPA1 causes the majority of cases. Mutations in the OPA3 gene are rare and are also associated with premature cataracts.[2] There is currently no cure for DOA, but individuals may benefit from low vision aids.[2]
Last updated: 11/13/2013

References

  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):http://www.ojrd.com/content/7/1/46. Accessed 11/13/2013.
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