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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.
- Individuals with Usher syndrome type I are nearly or completely deaf and experience problems with balance from a young age. They usually begin to exhibit signs of RP in early adolescence.
- Individuals with Usher syndrome type II experience moderate to severe hearing impairment, have normal balance, and experience symptoms of RP later in adolescence.
- Individuals with Usher syndrome type III are born with normal hearing but develop RP and then progressive hearing loss.
Approximately 3-6 percent of all deaf children and perhaps another 3-6 percent of hard-of-hearing children have Usher syndrome.
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:
- Visual function tests: visual fields and electroretinogram (ERG).
- A retinal examination.
- Hearing tests.
- Balance tests for all patients age ten years and older.
How is Usher syndrome treated?
Presently, there is no cure for Usher syndrome. The best treatment involves early identification in order to begin educational programs. The exact nature of these educational programs will depend on the severity of the hearing and vision impairments as well as the age and abilities of the individual. Typically, individuals will benefit from adjustment and career counseling; access to technology such as hearing aids, assistive listening devices, or cochlear implants; orientation and mobility training; and communication services and independent-living training that may include braille instruction, low-vision services, or auditory training.
Information obtained from National Institute of Health