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    Norrie Disease

    Important
    It is possible that the main title of the report Norrie Disease 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

    • ND
    • NDP
    • Anderson-Warburg syndrome
    • atrophia bulborum hereditaria
    • episkopi blindness
    • fetal iritis syndrome
    • Norrie syndrome
    • Whitnall-Norman syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.

    All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.

    Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.

    Resources

    Foundation Fighting Blindness
    7168 Columbia Gateway Drive, Suite 100
    Columbia, MD 21046
    Tel: (410)423-0600
    Fax: (410)872-0574
    Tel: (800)683-5555
    TDD: (800)683-5551
    Email: info@FightBlindness.org
    Internet: http://www.blindness.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

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Hearing Health Foundation
    363 Seventh Avenue, 10th Floor
    New York, NY 10016-3904
    United States
    Tel: (212)257-6140
    Fax: (212)257-6139
    Tel: (866)454-3924
    TDD: (888)435-6104
    Email: info@hearinghealthfoundation.org
    Internet: http://hearinghealthfoundation.org/home

    Retinitis Pigmentosa International
    P.O. Box 900
    Woodland Hills, CA 91365
    Tel: (818)992-0500
    Fax: (818)992-3265
    Tel: (800)344-4877
    Email: info@rpinternational.org
    Internet: http://www.rpinternational.org

    Norrie Disease Association
    P.O. Box 3244
    Munster, MA 46321
    Tel: (708)620-4556
    Email: joinnda@norries.org
    Internet: http://www.norriedisease.org

    National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown, MA 02272-0317
    Tel: (617)972-7441
    Fax: (617)972-7444
    Tel: (800)562-6265
    Email: napvi@perkins.org
    Internet: http://www.napvi.org

    National Federation of the Blind
    200 East Wells Street
    at Jernigan Place
    Baltimore, MD 21230
    USA
    Tel: (410)659-9314
    Fax: (410)685-5653
    Email: nfb@nfb.org
    Internet: http://www.nfb.org

    American Society for Deaf Children
    800 Florida Avenue NE
    2047
    Washington, DC 20002-3695
    Tel: (866)895-4206
    Fax: (410)795-0965
    Tel: (800)942-2732
    Email: asdc@deafchildren.org
    Internet: http://www.deafchildren.org

    American Foundation for the Blind
    2 Penn Plaza
    Suite 1102
    New York, NY 10121
    Tel: (212)502-7600
    Fax: (888)545-8331
    Tel: (800)232-5463
    TDD: (212)502-7662
    Email: afbinfo@afb.net
    Internet: http://www.afb.org

    American Council of the Blind
    2200 Wilson Boulevard
    Suite 650
    Arlington, VA 22201
    Tel: (202)467-5081
    Fax: (202)465-5085
    Tel: (800)424-8666
    Email: mailman@acb.org
    Internet: http://www.acb.org/

    National Association of the Deaf
    8630 Fenton Street
    Suite 820
    Silver Springs, MD 20910
    USA
    Tel: (301)587-1788
    Fax: (301)587-1791
    TDD: (301)587-1789
    Email: NADinfo@nad.org
    Internet: http://www.nad.org

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    Blind Children's Center
    4120 Marathon Street
    Los Angeles, CA 90029-3584
    USA
    Tel: (323)664-2153
    Fax: (323)665-3828
    Tel: (800)222-3566
    Email: info@blindchildrenscenter.org
    Internet: http://www.blindchildrenscenter.org

    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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    American Academy of Audiology
    11730 Plaza America Drive, Suite 300
    Reston, VA 20190
    Tel: (703)790-8466
    Fax: (703)790-8631
    Tel: (800)222-2336
    Email: infoaud@audiology.org
    Internet: http://www.audiology.org

    Perkins School for the Blind
    175 North Beacon Street
    Watertown, MA 02472
    Tel: (617)924-3434
    Fax: (617)926-2027
    Email: Info@Perkins.org
    Internet: http://www.Perkins.org

    National Consortium on Deaf-Blindness
    The Teaching Research Institute
    345 N. Monmouth Avenue
    Monmouth, OR 97361
    Tel: (800)438-9376
    Fax: (503)838-8150
    Tel: (800)438-9376
    TDD: (800)854-7013
    Email: info@nationaldb.org
    Internet: http://www.nationaldb.org

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    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: 1/19/2012
    Copyright 1988, 1989, 1994, 1996, 2001, 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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