Genetic factors Accelerating Progression to Advanced AMD

William Scott, PhD University of Miami, Miller School of Medicine

Co-Principal Investigators

Margaret A. Pericak-Vance, PhD University of Miami, Miller School of Medicine


Jonathan L. Haines, PhD Case Western Reserve University
Stephen G. Schwartz, MD University of Miami, Miller School of Medicine
Jaclyn L. Kovach, MD University of Miami, Miller School of Medicine
SriniVas Sadda, MD Doheny Eye Institute


Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in older adults in the United States. The factors that determine progression from early AMD (with little vision loss) to advanced AMD (with more severe vision loss) are poorly understood. We will use detailed clinical examinations of the eye and large-scale genetic analysis to identify new genetic factors that are associated with changes in the eye over time and with development of advanced AMD. The results of this study will improve our understanding of the AMD disease process and provide potential avenues for development of targeted therapies.

Project Details

The goal of our project is to identify genetic factors that influence progression of age-related macular degeneration (AMD) from early stages (where vision loss is less severe) to late stages (where there is significant visual impairment). Our study builds on an existing group of 400 individuals with early AMD who have been followed for at least two years and have had genetic factors measured across the genome. The first aim of our project is to analyze ocular coherence tomography (OCT) images taken at our first study visit (the "baseline exam") where early AMD was detected. These images will be evaluated for several features that might predict progression to more severe disease, and these features will be examined for association with genetic factors. In the second specific aim, we will examine these baseline OCT features for association with the time that it takes to progress to late AMD. We will also determine if the influence of these OCT features on progression is modified by genetic factors. Identifying measurable factors that predict progression to late AMD might help us design tailored clinical follow-up strategies (more frequent visits for those most at risk of progression, for example). Identifying genetic factors that predict faster or slower progression could also provide targets for the development of potential therapies.