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Oculocutaneous Albinism

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Oculocutaneous Albinism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • brown oculocutaneous albinism
  • minimal pigment oculocutaneous albinism
  • OCA1
  • OCA1A
  • OCA1B
  • OCA3
  • OCA4
  • oculocutaneous albinism type 1B
  • platinum oculocutaneous albinism
  • rufous oculocutaneous albinism
  • temperature-sensitive oculocutaneous albinism
  • tyrosinase-negative oculocutaneous albinism
  • tyrosinase-related OCA
  • yellow oculocutaneous albinism

Disorder Subdivisions

  • oculocutaneous albinism type 1A
  • oculocutaneous albinism type 1B
  • oculocutaneous albinism type 2
  • oculocutaneous albinism type 3
  • oculocutaneous albinism type 4

General Discussion

Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results abnormal development in the eyes resulting in vision abnormalities and light skin that is very susceptible to damage from the sun including skin cancer. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.

Resources

National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (800)648-2310
Tel: (800)473-2310
Email: noah@albinism.org
Internet: http://www.albinism.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Albinism Fellowship
P.O. Box 77
Burnley
Lancashire, BB11 5GN
United Kingdom
Tel: 07919543518
Tel: 447919543518
Email: support@albinism.org.uk
Internet: http://www.albinism.org.uk

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
TDD: (888)320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Internet: http://www.nichd.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/25/2012
Copyright  1985, 1989, 1992, 1994, 1999, 2007, 2008, 2012 National Organization for Rare Disorders, Inc.

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