Age-related macular degeneration (AMD) is a leading cause of irreversible blindness globally, with genetics playing a pivotal role in its development. Advances in next-generation sequencing and genetic analysis have led to comprehensive Genome-wide Association Studies (GWAS) and meta-analyses, identifying numerous AMD-associated loci and single nucleotide polymorphisms (SNPs). However, translating these genetic risk alleles into clinically meaningful outcomes for predicting and managing AMD has proven challenging. A little is known why some AMD patients experience slow disease progression, resulting in the dry form of AMD, while others develop rapidly progressing, severe disease leading to the wet form of AMD. Currently, there are no reliable indicators to predict the severity or progression of AMD.

This project aims to bridge this gap by exploring how specific combinations of risk alleles influence the clinical presentation, disease severity, progression, and outcomes in AMD patients. Our research will investigate key genetic risk factors associated with AMD development, progression, and severity. We will also explore the impact of multi-risk alleles on AMD pathophysiology, clinical phenotypes, and disease progression. The anticipated outcome is the development of a predictive model based on risk allele load for AMD severity and progression. This model could facilitate earlier diagnosis, enable more personalized treatment strategies, and improve the overall management of AMD, leading to better patient outcomes.