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Gene variant increases risk of age-related macular degeneration

Durham, N.C. Researchers at Duke University Medical Center and Vanderbilt University Medical Center have pinpointed the first major gene that determines an individual's risk for developing age-related macular degeneration (AMD). The chronic, progressive disease -- which affects as many as 15 million people in the United States -- is the leading cause of visual impairment and legal blindness in the elderly.

A common variant of the gene, called complement factor H (CFH), explains approximately 43 percent of the risk of AMD among older adults, the researchers estimated. The team identified the disease-related gene after screening 182 families affected by AMD and 495 other individuals with the condition.

The researchers will report their findings in a forthcoming issue of Science (published online March 10, 2005, in Science Express).

The genetic advance sheds light on the mechanisms underlying the disease and could lead to new avenues for treatment, the researchers said. The finding might also yield methods for identifying those patients at the greatest risk for developing the condition before symptoms arise, when therapies and changes in lifestyle might be most effective in slowing the disease progression.

"Macular degeneration is an important cause of blindness and loss of independence in the elderly," said Margaret Pericak-Vance, Ph.D., director of the Duke Center for Human Genetics and senior author of the report. "This gene opens the door to a whole new understanding of the factors that contribute to this disease.

"The finding may ultimately lead to new methods for identifying those at high risk for macular degeneration and suggests new pathways for drug development," she added.

AMD causes progressive impairment of central vision, and is the most common cause of legal blindness in Americans over the age of 55. The disease causes damage to the retina, a thin layer of nervous tissue that lines the inside of the e
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Contact: Kendall Morgan
kendall.morgan@duke.edu
919-660-1306
Duke University Medical Center
10-Mar-2005


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