In a study published on January 8, 2018 in the Proceedings of the National Academy of Sciences (PNAS), Demetrios G. Vavvas, MD, PhD, 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, addressed a controversial topic in the field of ophthalmology – whether treatment with the Age-Related Eye Disease Study (AREDS) formulation, a combination of high-dose antioxidants and zinc, is helpful or harmful to patients based on their underlying genetics. AREDS supplementation has been widely recommended for patients with intermediate AMD since 2001.
The researchers analyzed data from 802 patients (299 of those not analyzed in prior publications) who had been treated with either the AREDS formulation or a placebo in the original 2001 study. Their analyses showed that variations in CFH and ARMS2, two genes known to influence the progression to advanced AMD, powerfully affect an individual’s response to the AREDS formulation. Approximately 40% of patients in the study had a 50% reduction in risk of progression from intermediate to advanced AMD, which was double the benefit shown in the 2001 AREDS publication. However, 15% of patients with a specific combination of genetic risk variants nearly tripled their risk of developing neovascular AMD when treated with the AREDS formulation instead of a placebo.
Similar to the original AREDS study, the investigators in this study found that AREDS formulation treatment influences disease progression only in the neovascular form of AMD, commonly referred to as wet AMD. There was no significant treatment impact on progression to geographic atrophy, the advanced dry form of AMD.
“The results of our study show that an individual’s response to the AREDS formulation is influenced by that person’s genetic makeup, and underscores the importance of using genetic testing, whenever possible, to help guide the management of patients with AMD,” said Dr. Vavvas, adding “by utilizing genetics and personalized medicine to develop more precise diagnostics and treatments, we aim to improve the overall outcomes for our patients.”