Genotype-Phenotype Correlations in Age-Related Macular Degeneration

Project: Research project

Project Details


The genetic associations of age-related macular degeneration (AMD) have been recently elaborated in several populations. Mutations in Complement Factor H (CFH) and Age-Related Maculopathy Susceptibility protein 2 (ARMS2)/ high temperature requirement factor A1 (HTRA1) genes were significantly associated with AMD risk and protection in various populations. Despite these advances, we do not yet have a clear understanding of how these genes interact to modify the appearance of AMD, or even more importantly, how they affect the risk of progression to advanced AMD. This study will use existing genetic and clinical data in a subgroup of AMD patients recruited at Northwestern University in order to determine whether certain AMD appearances identified on clinical examination correlate to specific genetic patterns. We will collaborate with the Northwestern University (NU) Gene project, a bio-bank developed by the Center for Genetic Medicine with the goal of applying genetics to the practice of medicine. As part of this IRB-approved study, DNA samples and associated health information is collected from consenting patients for use by researchers to evaluate the role of genes in development and treatment of select diseases. By capitalizing on this existing data, we will study the role of genetics in defining AMD disease pattern, and risk for progression in these patients.
Effective start/end date7/1/126/30/14


  • Illinois Society for the Prevention of Blindness (Award Letter 8/2/12)


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