Cedars-Sinai Seeks Patients With Keratoconus For Study Examining Genetic Basis For The Disease

Cedars-Sinai Medical Center’s Keratoconus Research Program has recently been awarded a $3.4 million grant by the National Eye Institute of Health to study the genetic basis of keratoconus, a degenerative corneal disorder that causes distortion and reduced vision, affecting more than 20,000 people in the United States.

While the cause of the disease is unknown, previous studies have identified genetic factors associated with keratoconus. The goal of this five-year study is to identify the genes and possible mutations that may contribute to susceptibility to the disease.

“Special contact lenses can help those with keratoconus, but many will need corneal transplants during their lifetime to keep their vision,” says Yaron Rabinowitz, M.D., director of the Cornea-Genetic Eye Institute at Cedars-Sinai in Los Angeles and principal investigator of the study. “Analyzing a large database of corneal genes from people who have the disease will help us understand more about its genesis, and, we hope, ultimately lead to ways to slow the progression of the disease and to the development of new treatments.”

Any person with keratoconus with no other associated diseases is eligible for the study. Participants will receive an eye exam and high resolution computerized topography maps of their corneas. They will also complete a questionnaire regarding their medical and surgical history, and will have blood drawn so that researchers can study and analyze their genetic material. Participants must be over the age of 10. There is no cost to any patient who participates in the study.

Cedars-Sinai Medical Center