Age-related macular degeneration: genetics and implications for detection and treatment

Abstract

Age-related macular degeneration (ARMD) remains the most common cause of registerable blindness in the developed world. Despite extensive research, the pathogenesis of this condition remains elusive. Recent genetic advances in the understanding of inherited retinal dystrophies and the discovery of genes that code for retinal proteins have rekindled interest in the possibility of a genetic predisposition to ARMD. ARMD is most probably a disease with a multifactorial inheritance in which environmental factors can trigger disease in those who are 'genetically primed'. If it were possible to detect predisposing genes in these people, then perhaps novel therapies or preventive measures could be directed towards those at risk in the pre-symptomatic stage, in the hope of either preventing disease or decreasing its severity.