Age-Related Macular Degeneration: Ocular Genetic Studies

Age-related macular degeneration (AMD) is a multifaceted and complex disorder caused by a combination of genetic predisposition and environmental factors. The continuous unearthing of links between genetic variation and AMD supports the critical importance of genes in the development of this disease. Accordingly, genetic tests and polygenic scoring have been developed to predict the tendency and response to treatment. However, the effectiveness of these methods has not yet been proven. Moreover, there is no clinical data to suggest that studying an individual's genetic makeup improves treatment outcomes. This detailed review summarizes the genetic variations in the main pathogenetic pathways that may be promising therapeutic targets. Since overactivation of the complement system plays an important role, interventions targeting complement proteins are considered a promising treatment approach. Here, we will focus on molecules that regulate the complement system and are currently in clinical trials, especially those in advanced stages. Gene therapy stands out as a revolutionary, one-time treatment option, and its importance in the field of retinal diseases is rapidly increasing. For this reason, we will discuss the current status of gene therapies with both complement suppressor and anti-VEGF effects in clinical trials.