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Usher Syndrome Resource Guide
By the National Eye Institute

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Eye Diseases and Disorders Series - LPR Staff Project - January 19, 2005

(This article is for information purposes only. Always consult your doctor for medical advice.)

Click here to jump to a list of Usher Syndrome related links.

The following is an abridgement of an article that was provided courtesy of the National Eye Institute. A complete, printed copy of this article, as well as a other free publications offered by the NEI, can be ordered via their NEI Publications Catalog.

Usher Syndrome Resource Guide
By the National Eye Institute

The information provided in this Resource Guide was developed by the National Eye Institute (NEI) to help patients and their families in searching for general information about Usher syndrome. An eye care professional who has examined the patient's eyes and is familiar with his or her medical history is the best person to answer specific questions.

What Is Usher Syndrome?

Usher syndrome is an inherited condition that causes 1) a serious hearing loss that is usually present at birth or shortly thereafter and 2) progressive vision loss caused by retinitis pigmentosa (RP). RP is a group of inherited diseases that cause night-blindness and peripheral (side) vision loss through the progressive degeneration of the retina, the light-sensitive tissue at the back of the eye that is crucial for vision.

Researchers have described three types of Usher syndrome-type I, type II and type III.

How is Usher syndrome inherited?

The Usher syndrome types are inherited as an autosomal recessive trait. This means that an affected person receives one abnormal gene from each of his or her parents. A person who inherits a gene from only one parent will be a carrier, but will not develop the disease.

A person with Usher syndrome must pass on one disease gene to each of his or her children. However, unless the person has children with another carrier of Usher genes, the individual's children are not at risk for developing the disease. Currently we cannot reasonably test everyone for carrier status, but this may change in the years ahead.

How is Usher syndrome diagnosed?

Since individuals with Usher syndrome have both hearing and visual symptoms, we perform testing of both systems. This testing includes:

  1. visual function tests: visual fields and electroretinogram (ERG)
  2. a retinal examination
  3. hearing tests
  4. balance tests for all patients age ten years and older

Although some of the genes that cause Usher syndrome have been identified, the diagnosis is still based on ocular and clinical testing.

Is genetic testing for Usher syndrome available?

At this time, genetic testing for Usher syndrome is done only as part of research projects. This is due to many factors. Usher syndrome is not caused by only one gene. So far, 10 Usher genes have been mapped: 7 for type I, 3 for type II, and 1 for type 3. There are still more genes to find. A few of these genes have been sequenced and described. These are MYO7A, harmonin, CDH23, PCDH15, all causing type I. The usherin gene causes type II disease.

Finding the genes is a very important advance in the fight against Usher syndrome. Further study is required to characterize these genes, and determine how the mutated genes cause Usher syndrome. Additional genes that cause Usher syndrome also need to be identified. Several researchers throughout the world are working on Usher syndrome. Findings from this research may one day allow treatments for Usher syndrome to be developed.

Resource List

Individuals with Usher syndrome may find the following organizations useful for more information on the disease and rehabilitation:

American Association of the Deaf-Blind (AADB)
814 Thayer Avenue, Suite 302
Silver Spring, MD 20910-4500
(301) 495-4403
(301) 495-4402--TTY
Encourages independent living for individuals who are deaf-blind. Provides technical assistance to persons who are deaf-blind, families, educators, and service providers.

DB-LINK: National Information Clearinghouse on Children Who are Deaf-Blind
345 N. Monmouth Avenue
Monmouth, OR 97361
Offers information that assists education, medical, and service personnel in providing comprehensive services infants, toddlers, children, and youth who are deaf-blind in the U.S.

(The) Foundation Fighting Blindness
Executive Plaza 1, Suite 800
11435 Cronhill Drive
Owings Mills, MD 21117-2220
1-800-683-5555 (TDD)
(410) 568-0150
(410) 363-7139 (TDD)
Acts as a clearinghouse and distributor of self-help program information. Sponsors research on the cause, prevention, and treatment of retinitis pigmentosa, Usher's syndrome, macular degeneration, and other retinal degenerative conditions. Conducts education programs for those affected by the disorders as well as professionals and the general public. Coordinates a national information and referral service and the Retinal Donor program. Publishes newsletters and other publications.

Helen Keller National Center for Deaf-Blind Youths & Adults (HKNC)
111 Middle Neck Road
Sands Point, NY 11050
(516) 944-8900
Offers intensive and comprehensive rehabilitation training to individuals who are deaf-blind. Provides evaluation and training in communication skills, adaptive technology, orientation and mobility, independent living, work experience, and other support services.

National Family Association for Deaf-Blind (NFADB)
111 Middle Neck Road
Sands Point, NY 11050
Serves as the largest national network of families focusing on issues surrounding deaf blindness.

National Organization for Rare Disorders
55 Kenosia Avenue
P.O. Box 1968
Danbury, CT 06813-1968
(203) 744-0100
(203) 797-9590 (TDD)
Acts as a clearinghouse for information about rare disorders. Fosters networks between families with similar disorders. Educates the general public and medical profession about the existence, diagnosis, and treatment of rare disorders.

Office of Rare Diseases, National Institutes of Health
6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda, MD 20892
Coordinates the Rare Disease Clinical Research Database (RDCRD). Offers information on more than 6,000 rare diseases, current research and clinical trials, and support groups.

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