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UConn Advance

Health Center team finds glaucoma gene

March 28, 1997

Researchers at the UConn Health Center have identified the gene causing a form of glaucoma in newborns and infants.

If left untreated, the condition, known as primary congenital glaucoma, can cause blindness.

Mansoor Sarfarazi, an associate professor in the Department of Surgery, led the work which has made it possible to test blood for the abnormal gene. Significant research will be required for further development and trials for efficiency, but his discovery means development is now likely. The report of the discovery is carried in the April issue of Human Molecular Genetics.

"When we found the mutation in the gene, I was thrilled," Sarfarazi said. "Now we have more work to do before the exact role of this gene in the pathophysiology of this condition is understood."

Children born with primary congenital glaucoma develop enlarged eyes. The condition can be successfully treated with surgery, but Sarfarazi said surgery is more likely to succeed if it is performed early, so a test for the gene could lead to better outcomes for affected children. Children inherit the defective gene from both parents, so the test could be used to warn parents.

The condition affects one in 2,000 people in the Mideast and in the less-developed world and between one and 5,000 and one in 10,000 people elsewhere.

"Dr. Sarfarazi's discovery illustrates the partnership between the basic scientist and the physician in the academic health center," said Dr. Peter Deckers, dean of the School of Medicine.

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