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"Resources" on this report.
Copyright 1988, 1989, 1994, 1996, 2001, 2008
NORD is very grateful to Katherine B. Sims, MD, Director, Developmental Neurogenetics Clinic, Massachusetts General Hospital and Associate Professor of Neurology, Harvard Medical School, for assistance in the preparation of this report.
Synonyms of Norrie Disease
- Anderson-Warburg Syndrome
- Atrophia Bulborum Hereditaria
- Episkopi Blindness
- Fetal Iritis Syndrome
- ND
- NDP
- Norrie Syndrome
- Whitnall-Norman Syndrome
Disorder Subdivisions
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.
Organizations related to Norrie Disease
- American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston VA 20190
Phone #: 703-790-8466
800 #: 800-222-2336
e-mail: infoaud@audiology.org
Home page: http://www.audiology.org
- American Council of the Blind
2200 Wilson Boulevard, Suite 650
Arlington VA 22201
Phone #: 202-467-5081
800 #: 800-424-8666
e-mail: mailman@acb.org
Home page: http://www.acb.org/
- American Council of the Blind, Inc.
2200 Wilson Boulevard, Suite 650
Arlington VA 22201
Phone #: 202-467-5081
800 #: 800-424-8666
e-mail: N/A
Home page: http://www.acb.org
- American Foundation for the Blind
2 Penn Plaza, Suite 1102
New York NY 10021
Phone #: 212-502-7600
800 #: 800-232-5463
e-mail: afbinfo@afb.net
Home page: http://www.afb.org
- American Society for Deaf Children
PO Box 3355
Gettysburg PA 17325
Phone #: 800-942-6084
800 #: 800-942-2732
e-mail: ASDC1@aol.com
Home page: http://www.deafchildren.org
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Blind Children's Center
4120 Marathon Street
Los Angeles CA 90029-3584
Phone #: 323-664-2153
800 #: 800-222-3566
e-mail: info@blindchildrenscenter.org
Home page: http://www.blindchildrenscenter.org
- Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant MI 48858
Phone #: 989-779-9966
800 #: --
e-mail: bcf@blindchildrensfund.org
Home page: http://www.blindchildrensfund.org
- Deafness Research Foundation
641 Lexington Avenue, Fl 15
New York NY 10022-4503
Phone #: 212-328-9480
800 #: 866-454-3924
e-mail: jpizarro@drf.org/
Home page: http://www.drf.org/
- Foundation Fighting Blindness
11435 Cronhill Drive
Owings Mills MD 21117-2220
Phone #: 410-568-0150
800 #: 800-683-5555
e-mail: info@blindness.org
Home page: http://www.fightblindness.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda MD 20814
Phone #: 301-657-2248
800 #: N/A
e-mail: info@hearingloss.org
Home page: http://www.hearingloss.org
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
- National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: napvi@perkins.org
Home page: http://www.napvi.org
- National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: staff@navh.org
Home page: http://www.navh.org
- National Association of the Deaf
8630 Fenton Street, Suite 820
Silver Spring MD 20910
Phone #: 301-587-1788
800 #: --
e-mail: NADinfo@nad.org
Home page: http://www.nad.org
- National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth OR 97361
Phone #: 800-438-9376
800 #: 800-438-9376
e-mail: info@nationaldb.org
Home page: http://www.nationaldb.org
- National Federation of the Blind
200 East Wells Street
at Jernigan Place
Baltimore MD 21230
Phone #: 410-659-9314
800 #: --
e-mail: nfb@nfb.org
Home page: http://www.nfb.org
- Norrie Disease Association
Massachusetts General Hospital
Neurogenetics
Simches Research
Building, 5-238, 185 Cambridge Street
Boston MA 02114
Phone #: 617-726-5718
800 #: --
e-mail: ksims@partners.org
Home page: http://www.norries.org
- Perkins School for the Blind
175 North Beacon St.
Watertown MA 02472
Phone #: 617-924-3434
800 #: N/A
e-mail: Info@Perkins.org
Home page: http://www.Perkins.org
- Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills CA 91365
Phone #: 818-992-0500
800 #: 800-344-4877
e-mail: info@international.org
Home page: http://www.rpinternational.org
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