Winter 2001

National Expert Teaches Seattle Deaf-Blind Community About Usher Syndrome

Deaf-Blind people throughout the United States move to Seattle because of the available services and employment opportunities. The leading cause of Deaf-Blindness is Usher Syndrome. Recently, Dr. William Kimberling of Boys Town National Research Hospital gave a lecture at the Seattle Lighthouse's bi-weekly Deaf-Blind Community Class about this syndrome.

According to Dr. Kimberling, Usher Syndrome is a genetic disorder involving deafness and progressive loss of vision due to retinitis pigmentosa (RP). Some individuals with Usher Syndrome also experience balance problems. "It is very important to learn about the various genes," says Caryn Tenin, Lighthouse Customer Services Order Entry Specialist. Deaf-Blind due to Usher Syndrome, Caryn has worked at the Seattle Lighthouse for three years. "It is especially important because sometimes families don't even know they are carrying the genes," she adds.

There are three main types of Usher Syndrome. With Type I, the most common form, children are born deaf and with RP. RP is an eye disease causing gradual vision loss. First, the eye becomes less able to see in low light, resulting in night blindness. As RP progresses, the field of vision becomes increasingly narrow until only central vision remains. This is called tunnel vision. Many people with Usher Syndrome may retain some central vision for a very long time. Others become completely blind earlier in life.

Dr. Kimberling estimates that one out of seventy-five people carry a gene that can cause Usher Syndrome. If both the mother and father are carriers, they may have children with Usher Syndrome. However, if one parent has Usher's and the other parent is not a carrier, none of their children will be born with the syndrome. But, all of their children will be carriers. At present, Dr. Kimberling and his colleagues have identified ten genes that can cause some types of Usher Syndrome.

"It was very interesting learning new information about the different types of Usher Syndrome from Dr. Kimberling," continues Caryn. "We've traditionally thought about Usher's in terms of three types, but research has discovered that there are many genetic strains of Usher's. We also learned about research on gene therapy, and other types of treatment to prevent further deterioration of vision."

For more information on Usher Syndrome and current research efforts contact the Center for the Study and Treatment of Usher Syndrome at Boys Town National Research Hospital at 281-298-6157.

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