Eye Health Exams: Genetics & Glaucoma
"Researchers Discover
Glaucoma Gene"
American Optometric Association News
March 11, 2002
Researchers at the University of Connecticut Health Center have discovered a gene that causes adult onset primary open-angle glaucoma-the most common form of glaucoma.
Mansoor Sarfarazi, Ph.D., director, Molecular Ophthalmic Genetics Laboratory and professor of human genetics, Surgical Research Center, Department of Surgery, and his graduate assistant Tayebeh Rezaie, M.Sc., published the work in the February 8, 2002 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 and although there is no cure, medication or surgery are effective treatments.
The discovery of the gene causing POAG 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," Dr. Sarfarazi said. "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, M.D., dean of the University of Connecticut School of Medicine and executive vice president of the Health Center, said Dr. Sarfarazi's discovery was a great example of the high quality scientific work now being done throughout the institution.
"I don't think anyone really knows what this means to the public at large," said Pennsylvania College of Optometry President Tom Lewis, O.D., primary author of AOA's Care of the Patient with Open-Angle Glaucoma clinical practice guideline.
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 alteration-mutations on a gene-were associated with 16.7% 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.
100 North Rancho Road, Suite #1
Thousand Oaks, CA 91362
Phone (805)495-3937 Fax (805)373-9843
E-Mail