Treatment In Sight For Blinding, Deafening Disease

From: SanDiego Channel.com, CA - Jul 16, 2003

Researchers Studying How Defective Gene Causes Blindness

SAN DIEGO -- San Diego researchers have recently made an important discovery that could one day lead to a treatment for a rare disease that leaves children profoundly deaf and later in life steals away their sight, 10News reported.

Usher's syndrome, a rare disease that has already stolen the hearing of Liz and Adam Stone, is also starting to take away their sight.

Adam and Liz's parents had never heard of Usher's syndrome. They first heard about it after Liz came home from a summer camp for hearing-impaired children.

"She came home and explained to us that she had met other kids at school that were not only deaf, but also had a vision loss -- a progressive, deteriorating vision loss," Evan Stone, the father of the children, said.

Usher's syndrome causes severe deafness and blindness. Children are born deaf but when they reach their teenage years their vision starts to fade.

"The blindness is a progressive blindness that begins at the outside of the retina and comes in toward the center," explained University of California, San Diego researcher Dr. David Williams.

Local scientists are working hard to find the source of the disease, 10News reported.

UCSD researchers are looking at how a defective gene causes the blindness in Usher's syndrome.

Williams worked with mice to find the mutated gene.

"We've used mice as a model to try and understand what the gene does in the eye, and what the proteins the gene make (do) in the eye," Williams said.

Williams said by identifying the defective gene, a possible gene therapy treatment may be developed to stop the progressive loss of sight.

"The ultimate cure, I believe, is probably to get the gene that is not working replaced with a good copy of it," Williams said.

Liz Stone, now a college graduate, and Adam Stone, a college freshman, are slowly going blind but are confident researchers will eventually find a cure.

"They're very interested in finding treatments and cures. (They have) their blood genotyped to find out if they have the particular genes," said Jill Stone, mother of the Stone children.

The next step is to try gene therapy on mice with Usher's syndrome. If it works, human clinical trials could be next. But researchers said that could be years away.

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