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Genetic and Rare Diseases Information Center (GARD)

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Oculocutaneous albinism type 1


Other Names for this Disease

  • Albinism 1
  • ATN
  • OCA1
  • OCA1A
  • Oculocutaneous albinism type 1A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 11/7/2011

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 1. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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 Oculocutaneous albinism type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Albinism 1
  • ATN
  • OCA1
  • OCA1A
  • Oculocutaneous albinism type 1A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.