Gene mutation linked to macular degeneration, researchers find

Age-related macular degeneration, the leading cause of blindness in the elderly, has been linked to a gene mutation, according to three sets of researchers working independently.

Being able to relate a gene mutation to the likelihood of developing the illness may lead to a treatment in less than 10 years, scientists hope. An estimated 15 million Americans suffer from the disorder, which has no broad effective treatments. The disease occurs when the central region of the eye's retina deteriorates, damaging or destroying vision.

The teams studied the genes of people with AMD and others without the disease. They found that people with a variation in the CFH gene were more likely to have the illness. The gene is involved in the production of a protein that helps regulate inflammation in a branch of the immune system.

The gene findings are reported in a recent online issue of the journal Science. The research groups were led by Albert O. Edwards at the University of Texas Southwestern Medical Center, Josephine Hoh of Yale University School of Medicine and Margaret A. Pericak-Vance of Duke University Medical Center.