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Genetic and Rare Diseases Information Center (GARD)

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Oculocutaneous albinism type 2


Other Names for this Disease
  • Albinism 2
  • Albinism, oculocutaneous, type 2
  • Albinoidism
  • OCA2
  • Oculocutaneous albinism tyrosinase positive
More Names
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Overview


Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 9/19/2011

References

  1. Oculocutaneous albinism. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 10/15/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Oculocutaneous albinism type 2. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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. 
  • 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 Oculocutaneous albinism type 2. Click on the link to view a sample search on this topic.