Researchers ID genetic mutation associated with high risk of age-related macular degeneration
Age- related macular degeneration (AMD) is the leading cause of severe visual loss among the elderly. Researchers had previously identified several relatively common genetic variants which together predict a person's increased risk for AMD, but a significant number of persons without the disease also have these variants. Now, for the first time, investigators have been able to clearly show a specific rare mutation called CFH R1210C that predicts a very high risk of disease and is extremely uncommon among individuals who do not have the disease. Although it is a rare variant, accounting for about 1% of the total cases, it is highly related to familial disease and earlier age of onset. This research is published online and in an upcoming print edition of Nature Genetics. The paper is a collaborative effort between investigators from Tufts Medical Center, Tufts University School of Medicine and Brigham and Women's Hospital.
