Usher Syndrome Health Article

Diagnosis

Genetic testing is not readily available for people with Usher syndrome to look for their specific mutations (and thus confirm their diagnosis), in spite of the fact that a number of important genes have been identified. Some families do participate in genetic research studies by providing blood samples, with the hope that useful information may be learned about their genetic mutations, as well as Usher syndrome in general.

The diagnosis of Usher syndrome is based on the results from a variety of tests that measure hearing, vision, and balance. Sometimes the diagnosis is not made until a person with SNHL reaches adolescence and develops vision problems. A follow-up eye examination may allow an eye care specialist to detect changes seen in RP, thus confirming the diagnosis of Usher syndrome. Specialized testing of an affected person's vestibular system can be done to help determine the type of Usher syndrome as well.

Treatment and management

There is no cure for Usher syndrome. However, there are a number of ways to treat various symptoms.

Treatment and management of SNHL

Regular hearing exams are important to check for changes in hearing ability, especially for people with type II or type III Usher syndrome. Among people with milder forms of hearing loss, hearing aids and speech therapy are often useful. Sign language training for people with profound SNHL and their families provides a method of communication, although these skills need to be modified into tactile sign language as vision decreases. Some people with severe to profound forms of hearing loss may have cochlear implants placed in an effort to improve their perception of sound.

Treatment and management of RP

People with night blindness, tunnel vision and decreasing vision may benefit from a variety of techniques that help them cope with their ever-changing vision. The use of walking canes, guide dogs, magnifying lenses, flashlights, and Braille may be helpful. Specialized filtering lenses may decrease glare and make the eye more comfortable. Some people also find it useful to meet with low-vision specialists who can help them adapt to new lifestyle changes that help with daily living. Regular eye exams are important and allow early detection of cataracts, which may be treated with surgery.

Although there is no way to completely halt the symptoms of RP, studies published in the 1990s found that 15,000 IU of vitamin A palmitate can slow the course of the retinal changes among people with Usher syndrome type II. This therapy has not been recommended for people under 18 years of age, and women who may become pregnant need to discuss with their doctor the potential harms that vitamin A can cause for a developing baby. People who want to take the vitamin should speak with their doctor first and have regular blood tests to check vitamin levels as well as to rule out liver problems caused by the supplement.

There are a number of support groups available that provide education, support, and helpful advice to help people cope with the symptoms of Usher syndrome.

Prognosis

Usher syndrome generally does not cause a shortened life span for affected individuals. Although people live for many years with Usher syndrome, the physical symptoms and emotional side effects change over time. The vision problems usually worsen slowly over the years, forcing people to adapt their lifestyles, habits, and sometimes change professions. Regular eye exams can help diagnose cataracts that may be removed in an effort to maintain the best vision possible. Regular monitoring of hearing may be helpful for people with mild, moderate, and/or severe hearing loss, so that they can receive appropriate hearing aids. As vision problems (and sometimes hearing and/or balance problems) worsen, people are more likely to suffer emotionally, due to decreasing quality of life and independence. However, many low-vision devices, lifestyle modifications, and various support groups often provide much needed assistance to help maintain and/or improve quality of life for affected individuals.

BOOKS

Duncan, Earlene, et al. Usher's Syndrome: What It Is, How to Cope, and How to Help. New York: Charles C. Thomas Publisher, 1988.

Gorlin, R.J., H.V. Toriello, and M.M. Cohen. "Retinitis Pigmentosa and Sensorineural Hearing Loss (Usher Syndrome)." Hereditary Hearing Loss and Its Syndromes. Oxford Monographs on Medical Genetics, no. 28. New York and Oxford: Oxford University Press, 1995.

Stiefel, Dorothy H., and Richard A. Lewis. The Madness of Usher's: Coping With Vision and Hearing Loss/Usher Syndrome Type II. Business of Living Publishing, 1991.