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Utah Eye Researchers Identify Gene Mutation Responsible For Severe Form of Vision Loss

February 18, 2003 — Researchers at the University of Utah’s John A. Moran Eye Center have identified a gene mutation responsible for a severe form of a blinding eye disease known as adult on-set foveomacular dystrophy, a form of macular degeneration. The research, published in the February 2003 issue of the American Journal of Ophthalmology, could help eye doctors reduce the risk of blindness in families carrying the mutation.

Symptoms of the disease are very similar to a more prevalent blinding condition known as wet age-related macular degeneration (AMD). Both diseases rob patients of their central vision and ability to make out fine details.

“Our research evaluated the DNA of 12 members of a single family who we knew carried a gene (RDS/Peripherin) already known to cause other blinding diseases,” said Kang Zhang, M.D., Ph.D., associate professor ophthalmology and visual sciences at the University of Utah.

“We identified that eight of the family members carried the mutation and three of those individuals experienced severe vision loss due to choroidal neovascularization. With proper screening, we should now be able to identify patients at risk for this additional vision loss,” he said.

Choroidal neovascularization is caused when rapidly growing abnormal blood vessels beneath the macula begin to leak blood and fluid. The process can often cause severe vision loss within 24 hours.

“The good news is we can slow this vision loss down with new treatments if the bleeding is caught in time. Our long-term goal is to screen patients early enough that we can reduce their risk of getting the disease through changes in diet, lifestyle or pharmaceutical intervention,” he said.

Adult onset foveomacular dystrophy occurs in one out of every 8,000 people but is far less prevalent than AMD which affects 13 million Americans. AMD is the leading cause of vision loss in people over age 50; its cause is unknown although heredity is known to play an important role.

“The race to identify genes and mutations that cause AMD is certainly on,” said Zhang. “Unfortunately, it is a very complex disease. By understanding these macular dystrophies that look and act like AMD, we’re laying the groundwork for future breakthroughs that will help millions of people.”

Zhang joined the University of Utah and Moran Eye Center faculty in 2002. A graduate of Harvard Medical School and the Massachusetts Institute of Technology, he completed his residency in ophthalmology at Johns Hopkins University.