Leber's Congenital Amaurosis

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Leber's Congenital Amaurosis 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

  • Congenital Absence of the Rods and Cones
  • Congenital Retinal Blindness
  • Congenital Retinitis Pigmentosa
  • LCA
  • Leber's Amaurosis
  • Leber's Congenital Tapetoretinal Degeneration
  • Leber's Congenital Tapetoretinal Dysplasia

Disorder Subdivisions

  • None

General Discussion

Leber's Congenital Amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth or loss their sight within the first few of years of life. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or abnormal protrusion of the front (anterior), clear portion of the eye through which light passes (cornea) (keratoconus). In addition, some infants may exhibit hearing loss, mental retardation, and/or a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation). Leber's Congenital Amaurosis is inherited as an autosomal recessive genetic trait.

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

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

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

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 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

Lewis, Richard A. M.D.,M.S.
Baylor College of Medicine
Cullen Eye Institute
NC-206 1 Baylor Plaza
Houston, TX 77030
Tel: (713)798-3030

Musarella, Maria A., M.D., F.R.C.S.
Hospital for Sick Children
Research Institute
555 University Ave
Toronto
Ontario, M5G 1X8
Canada
Tel: 4165987506

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/

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

Foundation Fighting Blindness (Canada)
890 Yonge Street, 12th Floor
Toronto, Ontario, M4W 3P4
Canada
Tel: 416-360-4200
Fax: 416-360-0060
Tel: 800-461-3331
Email: info@ffb.ca
Internet: http://www.ffb.ca

Retina International
Ausstellungsstrasse 36
CH-8005
Zürich,
Switzerland
Tel: (0)44 444 10 77
Fax: (0)44 444 10 70
Email: c.fasser@e-link.ch
Internet: http://www.retina-international.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

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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