May 31, 2019 Conference


Risk Factors and Genetic Testing

Dr. Deeba Husain, Mass Eye and Ear (Presenter)

Age related macular degeneration is the leading cause of blindness in people over the age of 50 years of age in the developed world and third leading cause worldwide.   About 196 million are projected to have AMD globally by 2020 and 288 million by 2040. AMD is a multifactorial disease, where genetics and other non-genetic factors have been shown to play a role. The pathogenesis of AMD is not fully understood, and this has led to lack of treatments for the dry forms of this disease.  

Some of the risk factors are better understood than others and there is ongoing research to evaluate the role of these risk factors. Age appears to be the most important risk factor; the chance of developing AMD increases significantly as a person gets older. Smoking is another established risk factor for age-related macular degeneration. Other factors that may increase the risk of this condition include race, sex, high blood pressure, heart disease, diet, level of activity and exposure to ultraviolet (UV) rays from sunlight. Researchers have considered changes in many genes as possible risk factors for age-related macular degeneration. A large AMD consortium study has shown that genome wide search revealed 34 loci and genes with rare variant burden for AMD.  However, studies evaluating the role of these genetic factors in causation of AMD, progression of disease and response to treatment have had conflicting results. In this talk I will present what we know about the nongenetic & genetic risk factors and role of genetic testing in AMD.