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Vol. LVII, No. 8
April 22, 2005

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Gene Found to Increase Risk of Common Cause of Blindness

Scientists have identified a gene that is "strongly associated" with a person's risk for developing age-related macular degeneration (AMD). The finding was made by three independent teams, which include researchers with the National Eye Institute and other leading research centers. Detecting an AMD-associated gene may lead to early detection and new strategies for prevention and treatment for the debilitating eye disease.

AMD blurs or destroys sharp, central vision. There is no known cure. Most scientists think the cause lies in an interplay of hereditary and environmental factors. It is the leading cause of blindness in people over age 60.

Family history of AMD is a risk factor for the disease. In recent years, eye researchers have been investigating certain portions of chromosomes to find AMD-associated genes. The new studies provide the strongest evidence yet of a specific gene association.

"The three studies are a significant step in AMD research. They confirm a strong genetic component of AMD, which may allow scientists to develop tests for the disease before symptoms begin to appear and when therapies might help slow its progress," said NEI director Dr. Paul Sieving.

The three studies used different methods to screen the genomes from different groups of AMD patients. Yet all three studies came up with a commonly inherited variant of the same gene, called complement factor H (CFH). The CFH gene is responsible for a protein that helps regulate inflammation in part of the immune system that attacks diseased and damaged cells. In some patients with AMD, inflammation in the eyes may trigger a biological process leading to the disease.