Genotype-Phenotype Correlations and Genetic Risk Assessment in Age-Related Macular Degeneration

Age-related macular degeneration (AMD), the leading cause of irreversible vision loss in the elderly, presents researchers and clinicians with a complex challenge due to its multifaceted etiology and phenotype. The difficulty in developing effective treatments, especially for atrophic AMD, is an ongoing concern. Genetics plays a significant role in AMD's pathogenesis, with 52 variants in 34 loci linked to AMD based on a genome-wide association study. The association of genetic burden to the phenotypic and progression features of AMD is a current focus in the field. This perspective presents available information on phenotype-genotype correlations in AMD and on future directions in AMD genetic research which may be further corroborated with specific phenotypes and progression patterns to eventually develop personalized follow-up and therapeutic strategies.