Albinism, oculocutaneous

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Albinism, oculocutaneous 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

  • OCA1
  • OCA1A
  • tyrosinase-related OCA
  • tyrosinase-negative OCA
  • tyrosinase-negative oculocutaneous albinism
  • oculocutaneous albinism type 1B
  • OCA1B
  • yellow oculocutaneous albinism
  • temperature-sensitive OCA
  • platinum oculocutaneous albinism
  • minimal pigment oculocutaneous albinism
  • OCA2
  • OCA4
  • Brown OCA

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 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. Abnormal or insufficient melanin pigmentresults in vision abnormalities and light skin that is very susceptible to damage from the sun. 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: (603)887-6049
Tel: (800)473-2310
Email: info@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, Intl BB11 5GN
United Kingdom
Tel: 44 1282 771900
Email: info@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
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.