Genetic Testing and the Treatment of Age-Related Macular Degeneration

Since 2001, A combination of high-dose antioxidants and zinc has been the prescribed method for dealing with intermediate Age-Related Macular Degeneration. However, a study published on January 8th raises the question of whether or not these measures are helpful or harmful to patients. The study was conducted by Demetrios G. Vavvas, MD, Ph.D., Associate Professor of Ophthalmology at Harvard Medical School and Incumbent of the Monte J. Wallace Ophthalmology Chair in Retina at Mass. Eye and Ear, as well as investigators from University of Toronto and Stanford University and, was published in the Proceedings of the National Academy of Sciences (PNAS). The usage of the prescribed treatment is considered by some in the field of ophthalmology to be controversial, which was the reason for the study.

The researchers reviewed data from the original 2001 study for 802 patients, with 299 of the patients not previously analyzed in publications. These patients had all been treated with either the AREDS formulation or a placebo. They discovered that the genes that influence the progression to advanced AMD, CFH, and ARMS2, also affect a person’s response to the AREDS formulation. About 40% of those studied showed a 50% reduction in risk of progression the more advanced AMD. This is double the benefits in the original 2001 publication. But, 15% that shared specific combinations of genetic variants almost tripled their risk of getting neovascular AMD.

The take away from the study is that not every person responds the same way to treatment. The study shows the importance of further research about genetic testing and how it relates to management of patients with AMD. What works for one patient does not necessarily work for all patients, but by using genetics and personalized medicine, we can develop more precise treatments.

If you are at risk for AMD or have AMD, we would be happy to see you for a full eye exam and offer preventative measures such as nutrition, vitamins and genetic testing. If you are uncertain if you are at risk our eye exam will be the first step to detection. Call our office today to book your appointment at 587-353-5061 or email us at [email protected]