Norrie Disease

National Organization for Rare Disorders, Inc.

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 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
Email: staff@navh.org
Internet: http://www.navh.org

Foundation Fighting Blindness
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

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

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
641 Lexington Avenue, Fl 15
New York, NY 10022-4503
United States
Tel: (212)328-9480
Fax: (212)328-9484
Tel: (866)454-3924
TDD: (888)435-6104
Email: jpizarro@drf.org/
Internet: http://www.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
Neurogenetics
Simches Research
Building, 5-238, 185 Cambridge Street
Boston, MA 02114
Tel: (617)726-5718
Fax: (617)724-9620
Email: ksims@partners.org
Internet: http://www.norries.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
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 Council of the Blind, Inc.
2200 Wilson Boulevard, Suite 650
Arlington, VA 22201
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
2 Penn Plaza, Suite 1102
New York, NY 10021
Tel: (212)502-7600
Fax: (212)502-7777
Tel: (800)232-5463
TDD: (212)502-7662
Email: afbinfo@afb.net
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

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 Spring, 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
Building 31 Rm 6A32
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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
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 St.
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 (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
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

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

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