A Clinician's View of the Molecular Genetics of Age-Related Maculopathy

Molecular genetic studies of age-related maculopathy (ARM), including family-based linkage studies and case-control association studies, have yielded valuable insights into the risks of developing this condition and potential disease-causing mechanisms. Variants in the complement factor H gene and LOC387715 have consistently been shown to be major risk factors for ARM. Additional genes, and environmental, behavioral, and dietary factors, also play a major role in ARM pathogenesis. The present studies are a starting point toward our understanding of the causes of ARM and for future therapeutic studies. As clinicians, we can already begin to use our knowledge of ARM genetics to counsel and care for our patients at risk.