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Genetic find could help in eye disease

Feb. 4, 2011 at 1:06 PM   |   Comments

MIAMI, Feb. 4 (UPI) -- The discovery of a gene causing retinitis pigmentosa could help a Florida family searching for a cause of their adult children's blindness, researchers say.

Researchers at the University of Miami have identified a gene responsible for RP -- a degenerative disease of the retina -- in the family of Betti and Carlos Lidsky, who have four children, three of whom are blind, The Miami Herald reported Friday.

"We are thrilled, so very thrilled," Betti Lidsky of Sunny Isles Beach said. "I can't begin to say how much this means to us. These researchers are our heroes. They've worked so hard on this."

Testing had shown that both of the Lidskys carried a recessive gene that meant a one in four chance that a child would have RP.

Since their two oldest children were diagnosed with RP in 1992, the Lidskys have had the family tested for dozens of RP-linked genes, but none was found until UM researchers began looking for mutations in 2009 and located a genetic mutation in the Lidskys last summer.

Researchers say they don't know yet whether the particular defect discovered may affect only the Lidskys or other families as well.

There are more than 40 genes known to cause RP, which begins as night blindness, then progresses to tunnel vision before leading to complete blindness.

RP and macular degeneration, another retinal degenerative disease, affect about 6 million people in the United States.

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