Scientists at the National Eye Institute (USA) studied the AREDS supplements in 2 clinical trials, called the Age-Related Eye Disease Studies (AREDS and AREDS2). They found that people with intermediate or late Age-Related Macular Degeneration (ARMD) who took these vitamin supplements every day were less likely to lose their central vision. We would like to expand on these studies and determine if patients’ response to these supplements varies based on their genetic makeup (genotype). We have previously shown in a smaller dataset that AREDS vitamins may actually accelerate the disease based on the genetic makeup [1-2]. Utilizing UK Biobank’s large scale dataset can further substantiate these findings.
While studying the correlation between AREDS use, genotype, and ARMD progression we would also like to examine the number of cases in which inherited retinal dystrophies (IRDs) are misdiagnosed. An analysis of the genetics of IRDs such as congenital toxoplasmosis, Best’s Disease, ARMD, and North Carolina Macular Dystrophy (NCMD) would also be conducted to determine if these diseases with similar phenotypes, but differing mutations, are commonly misdiagnosed.
Project duration would be three years of data collection and analysis. The results of this study can have imperative implications in Age-Related Macular Degeneration standard of care and course of treatment. We also aim to demonstrate the importance of DNA sequencing as a tool in determining patient diagnosis.
References:
1. Demetrios G. Vavvas (!!!!!!!o! !. !!!!!!), Kent W. Small, Carl C. Awh, Brent W. Zanke, Robert J.Tibshiranie Rafal Kustrag CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation . PNAS www.pnas.org/lookup/suppl/doi:10. 1073/pnas.1718059115/-/DCSupplemental.
2. Stephen R. Kaufman, MD1, Pradeepa Yoganathan, MD2,3,4 ,Kent W. Small, MD5, Deepam Rusia, MD1,Sophia I. Pachydaki, MD1,Stephen M. Conti, MD1, Robert E. Wenz, MD1, Mark A. Gersman, MD1,Fadi S. Shaya, BS5, and Rafal Kustra, PhD6 Genetics and Age-Related Eye Disease Study Formulation Interaction in Neovascular Age-Related Macular Degeneration. Journal of VitreoRetinal Diseases sagepub.com/journals-permissions DOI: 10.1177/2474126420941713 jvrd.sagepub.com