The Role of Genetics in Treating ARMD
Upon genetic analysis it was revealed that the patient was Genotype Group 2 (GTG2), a genetic risk classification in AMD research describing individuals who carry high-risk complement factor H (CFH) but carry no high-risk alleles at the ARMS2 locus. This genetic profile is clinically significant because it appears to influence how patients respond to the Age-Related Eye Disease Study formulation (AREDS-F), a supplement regimen of high-dose antioxidants and zinc widely recommended to slow AMD progression. Rather than conferring protection, AREDS-F use in GTG2 patients has been associated with an increased risk of progression to wet ARMD compared to placebo, while GTG3 patients taking the same supplement experienced substantial protection.7
These findings suggest that high-dose zinc may worsen complement dysregulation in individuals with high-risk CFH alleles, supporting the argument that genetic testing should be performed before initiating AREDS-F supplementation in patients at risk for wet ARMD. This patient did not take AREDS supplements due to this finding.