Age-related macular degeneration-clinical review and genetics update

Abstract

Age-related macular degeneration (AMD) is the leading cause of central vision impairment in persons over the age of 50 years in developed countries. Both genetic and non-genetic (environmental) factors play major roles in AMD etiology, and multiple gene variants and lifestyle factors such as smoking have been associated with the disease. While dissecting the basic etiology of the disease remains a major challenge, current genetic knowledge has provided opportunities for improved risk assessment, molecular diagnosis and clinical testing of genetic variants in AMD treatment and management. This review addresses the potential of translating the wealth of genetic findings for improved risk prediction and therapeutic intervention in AMD patients. Finally, we discuss the recent advancement in genetics and genomics and the future prospective of personalized medicine in AMD patients.

Keywords: GWAS; age-related macular degeneration; disease management; exome-chip; rare-variant association; risk prediction; whole-exome sequencing; whole-genome sequencing.

Fig. 1

Fundus photographs at different stages of age-related macular degeneration (AMD) progression. (a) Large and intermediate drusen at intermediate stage of AMD. (b) Neovascular AMD—right eye with evidence of sub-retinal fluid, hemorrhage, and hard exudate in the presence of choroidal neovascularization. (c) Fluorescein angiography of the neovascular AMD—Left eye showing the hyperfluorescence of the fluorescein angiogram corresponding to the area of the choroidal neovascularization. (d) Central geographic atrophy—Right eye with evidence of geographic atrophy involving the center of the fovea with evidence of large drusen temporally.