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

Anderson-Warburg Syndrome
Fetal Iritis Syndrome
ND
NDP
Whitnall-Norman Syndrome
Atrophia Bulborum Hereditaria
Episkopi Blindness
Norrie Syndrome

Disorder Subdivisions

None

General Discussion

Norrie disease is a rare inherited neurodevelopmental disorder characterized by blindness in both eyes (bilateral) at birth (congenital). In some cases, children with this disorder may also experience varying degrees of mental retardation. Additional symptoms associated with Norrie disease may include mild to profound hearing loss and additional eye abnormalities. The lenses of the eyes may become cloudy (cataracts) during early infancy and the eyeballs may shrink (phthisis bulbi). Norrie disease is inherited as an X-linked recessive trait.
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Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: http://www.navh.org

Foundation Fighting Blindness, Inc.
11435 Cronhill Drive
Owings Mills, MD 21117-2220
Tel: (410)568-0150
Fax: (410)363-2393
Tel: (800)683-5555
TDD: (800)683-5551
Email: info@blindness.org
Internet: http://www.fightblindness.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Deafness Research Foundation
8201 Greensboro Drive
Third Floor
McLean, VA 22102
United States
Tel: 7036109025
Fax: 7036109005
Tel: 8008295934
Email: drf@drf.org

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@international.org
Internet: http://www.rpinternational.org

Norrie Disease Association
Massachusetts General Hospital
E. #6217
149 13th Street
Charlestown, MA 02129
Tel: (617)726-5718
Fax: (617)724-9620
Email: ksims@partners.org
Internet: http://www.dnalab.org

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02472
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
1800 Johnson Street
Baltimore, MD 21230
USA
Tel: 4106599314
Fax: 4106855653
Email: nfb@nfb.org
Internet: http://www.nfb.org

American Council of the Blind, Inc.
1155 15th Street
Suite 1004
Washington, DC 20005
Tel: (202)467-5081
Fax: (202)467-5085
Tel: (800)424-8666
Internet: http://www.acb.org

American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
Tel: (800)942-6084
Fax: (717)334-8808
Tel: (800)942-2732
TDD: (717)334-7922
Email: ASDC1@aol.com
Internet: http://www.deafchildren.org

American Foundation for the Blind
11 Penn Plaza
Suite 300
New York, NY 10001
Tel: (212)502-7600
Fax: (212)502-7777
Tel: (800)232-5463
TDD: (212)502-7662
Email: afbinfo@afb.org
Internet: http://www.afb.org

Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant, MI 48858
Tel: (989)779-9966
Fax: (989)779-0015
Email: bcf@blindchildrensfund.org
Internet: http://www.blindchildrensfund.org

Council of Families with Visual Impairment
1155 15th St. NW
Suite 1004
Washington, DC 20005
Tel: (202)465-5081
Fax: (202)465-5085
Email: info@acb.org
Internet: http://www.acb.org/

National Association of the Deaf
814 Thayer Avenue
Suite 250
Silver Spring, MD 20910-4500
USA
Tel: 3015871788
Fax: 3015871791
TDD: 3015871789
Email: NADinfo@nad.org
Internet: http://www.nad.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
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: 3236642153
Fax: 3236653828
Tel: 8002223566
Email: info@blindcntr.org
Internet: http://www.blindcntr.org

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

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

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: 8/22/2001
Copyright 1988, 1989, 1994, 1996, 2001 National Organization for Rare Disorders, Inc.

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