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    Oculocutaneous Albinism

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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