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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Optic atrophy 1


Other Names for this Disease
  • Kjer-type optic atrophy
  • OAK
  • OPA1
  • Optic atrophy, juvenile
  • Optic atrophy, Kjer type
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Overview


Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings.[1] It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family.[2] Treatment focuses on individual symptoms when possible.[1]
Last updated: 12/22/2010

References

  1. Cécile Delettre-Cribaillet, Christian P Hamel, Guy Lenaers. Optic Atrophy Type 1. GeneReviews. July 20, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1248/. Accessed 12/22/2010.
  2. Optic atrophy type 1. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/optic-atrophy-type-1. Accessed 12/22/2010.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Optic atrophy 1. Click on the link to view a sample search on this topic.