February 11, 2002

Researchers at the UConn Health Center have discovered a gene that causes adult onset primary open-angle glaucoma - the most common form of glaucoma.

Mansoor Sarfarazi, director of the Molecular Ophthalmic Genetics Laboratory and professor of human genetics in the Surgical Research Center, Department of Surgery, and graduate assistant Tayebeh Rezaie, published the work in the Feb. 8 issue of Science.

Primary open-angle glaucoma affects 2.4 million Americans and more than 33 million people worldwide. After cataracts, it is the second largest cause of blindness. Although there is no cure, medication or surgery are effective treatments.

The discovery of the gene causing primary open-angle glaucoma makes possible the development of precision testing for those who might have it, and target-specific therapies.

"We're very excited about the discovery of this glaucoma gene," says Sarfarazi. "What's most significant is that now we have the ability to identify the disease and make a pre-symptomatic diagnosis. Decades before even the first signs of the disease have occurred, we will know who is at risk and can take preventive action."

Peter J. Deckers, dean of the UConn School of Medicine and executive vice president of the Health Center, says Sarfarazi's discovery is a great example of the high quality scientific work now being done throughout the institution.

"We're very proud of Dr. Sarfarazi and his team," says Dr. Deckers. "The discovery is a perfect example of the important accomplishments that can occur as a result of years of work, careful and thoughtful experimentation, and singular focus. Great discoveries do not happen overnight, they occur incrementally, through discipline and diligence."

Sarfarazi in 1997 also discovered a major gene that causes primary congenital glaucoma, a less frequent but still common form of the disease.

The current research took place over a number of years and involved a study of 54 families with inherited adult-onset glaucoma. In investigating the families' genetic material, the Health Center researchers noticed sequence alterations - mutations on a gene - were associated with 16.7 percent of them.

The gene is conserved - nearly the same - along the evolutionary path from the mouse to the human. Essential genes, those vital to a function such as vision, change less than other, non-essential genes. When the researchers noticed the sequence alteration in the families with glaucoma, they knew they had pinpointed their gene.

The gene is on chromosome 10p14 and was named by the researchers Optineurin, for "Optic Neuropathy Inducing" protein. They also called a protein associated

with the gene optineurin. This protein, says Sarfarazi, is likely to play a neuro-protective role in normal vision.

Researchers collaborating on the study included scholars from Yale, Toronto, Chicago, New York, and two institutions in the United Kingdom.