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Gene for age-related macular degeneration discovered by Yale researchers

Researchers at Yale School of Medicine have identified a gene for age-related macular degeneration (AMD) on a region of chromosome 1, leading the way for targeted treatment for this widespread eye disease that causes blindness in millions of people.

The study, led by Josephine Hoh, assistant professor in the Department of Epidemiology and Public Health (EPH) at Yale School of Medicine, will be published online in the March 10 issue of Science Express. Hoh and colleagues from Yale, Rockefeller University and the National Eye Institute, used a highly interdisciplinary approach to conclude that the gene for a substance known as complement factor H (CFH) on chromosome 1 is associated with AMD.

"This is the first study to identify a common variant of the specific gene being associated with AMD," said Hoh. "Caucasian AMD patients are at least four times more likely to have one particular alteration in the CFH gene that produces a different form of the CFH protein compared to individuals without the disease."

AMD is a debilitating eye disease affecting about 15 million people in the United States. It destroys vision by attacking an area of the retina called the macula, particularly in people age 60 or older. The macula is the most sensitive region of the retina, enabling fine-detail vision, reading, driving and leisure tasks such as playing sports and watching movies and television. As part of the normal aging process, yellowish waste deposits called drusen accumulate around the macula, but in individuals with AMD, the drusen are larger and more numerous, killing cells necessary for the nourishment of adjacent retinal photoreceptor cells. As these photoreceptors die in and around the macula, central vision is lost. Peripheral vision is not impaired by AMD.

There are two forms of AMD, the more common "dry" form and the less common "wet" form. The wet form can rapidly lead to blindness, while the dry form progresses more slowly. Both are as
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Contact: Karen N. Peart
karen.peart@yale.edu
203-432-1326
Yale University
10-Mar-2005


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