Norrie Disease

Important
It is possible that the main title of the report Norrie Diseaseis not the name you expected.

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 X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.

All the 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. Some affected individuals may develop hearing (auditory) loss and 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, X-linked familial exudative vitreoretinopathy (XL-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NPD gene. Each of these disorders can also occur secondary to mutations in other genes.

Resources

National Association for Visually Handicapped
22 West 21st Street
New York
NY
10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
staff@navh.org
http://www.navh.org

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

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Deafness Research Foundation
8201 Greensboro Drive
Third Floor
McLean
VA
22102
United States
Tel: (703)610-9025
Fax: (703)610-9005
800: (800)829-5934
drf@drf.orgRetinitis Pigmentosa International
P.O. Box 900
Woodland Hills
CA
91365
Tel: (818)992-0500
Fax: (818)992-3265
800: (800)344-4877
info@international.org
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
ksims@partners.org
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
800: (800)562-6265
napvi@perkins.org
http://www.napvi.org

National Federation of the Blind
1800 Johnson Street
Baltimore
MD
21230
USA
Tel: (410)659-9314
Fax: (410)685-5653
nfb@nfb.org
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
800: (800)424-8666
http://www.acb.org

American Society for Deaf Children
PO Box 3355
Gettysburg
PA
17325
Tel: (800)942-6084
Fax: (717)334-8808
800: (800)942-2732
TDD: (717)334-7922
ASDC1@aol.com
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
800: (800)232-5463
TDD: (212)502-7662
afbinfo@afb.org
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
bcf@blindchildrensfund.org
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
info@acb.org
http://www.acb.org/

National Association of the Deaf
814 Thayer Avenue
Suite 250
Silver Spring
MD
20910-4500
USA
Tel: (301)587-1788
Fax: (301)587-1791
TDD: (301)587-1789
NADinfo@nad.org
http://www.nad.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
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
800: (800)222-3566
info@blindchildrenscenter.org
http://www.blindchildrenscenter.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto
CA
94303
Tel: (650)462-3143
Fax: (650)462-3143
800: (877)735-2929
info@letthemhear.org
http://www.letthemhear.org

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

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

National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth
OR
97361
Tel: (800)438-9376
Fax: (503)838-8150
800: (800)438-9376
TDD: (800)854-7013
info@nationaldb.org
http://www.nationaldb.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: 4/14/2008
Copyright 1988, 1989, 1994, 1996, 2001, 2008 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 14, 2008

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