Genomic aspects of age-related macular degeneration

Abstract

Age-related macular degeneration (AMD) is a major late-onset posterior eye disease that causes central vision to deteriorate among elderly populations. The predominant lesion of AMD is the macula, at the interface between the outer retina and the inner choroid. Recent advances in genetics have revealed that inflammatory and angiogenic pathways play critical roles in the pathophysiology of AMD. Genome-wide association studies have identified ARMS2/HTRA1 and CFH as major AMD susceptibility genes. Genetic studies for AMD will contribute to the prevention of central vision loss, the development of new treatment, and the maintenance of quality of vision for productive aging.

Keywords: Age-related macular degeneration (AMD); Age-related maculopathy susceptibility protein 2 (ARMS2); Complement factor H (CFH); Genome-wide association study (GWAS); HTRA1; Single nucleotide polymorphism (SNP).