What is Usher Syndrome?

In the new book, “Between, Georgia” by Joshilyn Jackson, in bookstores July 2006, the character of Stacia Frett, the mother to main character Nonny, has Usher Syndrome.
A little known disease affecting vision and hearing, would you know if you had the symptoms? In this article we give a good precise overview of Usher Syndrome and the symptoms you’ll need to know.

Usher Syndrome is a inherited condition that causes hearing loss and progressive vision loss. The vision loss is from retinitis pigmentosa, which is a group of diseases that causes night blindness and peripheral vision loss. It is carried from a recessive gene, so that both parents must have this gene for it to be passed to their child. There are three types of Usher Syndrome, known simply by Type I, Type II, and Type III.

Usher syndrome type I – Nearly completely deaf and problems with balance, from a young age. They will experience retinitis pigmentosa in their early adolescence.
Usher syndrome type II – Moderately to severely hearing impaired, with normal balance. They will experience retinitis pigmentosa in later adolescence.
Usher syndrome type III – Normal hearing when born. They will experience retinitis pigmentosa and progressive hearing loss later in life.

Diagnosis of Usher Syndrome includes testing from:
visual function tests: visual fields and electroretinogram (ERG)
a retinal examination
hearing tests
balance tests for all patients age ten years and older

Genetic testing for Usher Syndrome is currently only done in research projects since it is not caused by one gene. So far there have been 10 genes mapped for this disease and there are still many more to find before there can be genetic testing for this syndrome.

National Eye Institute Research Study:
Researchers at of the National Eye Institute have been following individuals with Usher syndrome (Research Protocol # 93-EI-0161.) They are available for patient examination and consultation. The vision and hearing of each patient is evaluated. In addition, samples of blood from each patient are studied to better understand the genes involved in Usher syndrome. Patients interested in participating in this research study should contact:
Meira R. Meltzer, MA, MS
Genetic Counselor
National Eye Institute
(301) 402-4175

Other Resources:
American Association of the Deaf-Blind (AADB)
814 Thayer Avenue, Suite 302
Silver Spring, MD 20910-4500
(301) 495-4403
(301) 495-4402 – TTY

National Family Association for Deaf-Blind (NFADB)
111 Middle Neck Road
Sands Point, NY 11050

National Organization for Rare Disorders
55 Kenosia Avenue
P.O. Box 1968
Danbury, CT 06813-1968
(203) 744-0100
(203) 797-9590 (TDD)

Office of Rare Diseases, National Institutes of Health
6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda, MD 20892

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