• age related macular degeneration;
  • epigenetics;
  • genetic variants;
  • gene-environment;
  • next generation sequencing


The last 10 years have seen an unprecedented explosion in our knowledge regarding the genomic basis of age-related macular degeneration. This has come about through major advances in computing power, microfabrication of large numbers of molecular markers on chips and improved statistical algorithms for analysis. In tandem, it has become clear that age-related macular degeneration appears to be a multifactorial disease with influences from genetic and structural variants, as well as epigenetic involvement. The combination of these factors with known environmental determinants indicates the highly complex nature of this disease, but at the same time also offers insights into risk prediction and disease stratification through genotype profiling.