Genetic and Environmental Factors Associated With Reticular Pseudodrusen in Age-Related Macular Degeneration

In Brief Purpose: To analyze the genetic and environmental factors associated with reticular pseudodrusen (RPD) in age-related macular degeneration (AMD). Methods: In a large population, AMD patients (n = 519) with and without RPD were assessed with a standardized examination including infrared images and spectral domain optical coherence tomography scans. Three groups were defined: Group 1: AMD patients with RPD (n = 105); Group 2: AMD patients without RPD (n = 414); and Group 3: controls with no AMD and no RPD (n = 430). Four genes associated with AMD (CFH, ARMS2/HTRA1, C3, apolipoprotein E) and environmental factors were assessed between the 3 groups. Results: None of the environmental factors studied were more significantly associated to either Group 1 or Group 2. The odds ratios and 95% confidence intervals for individuals homozygous for the CFH risk allele were 4.0 (2.1–7.7) ([95% confidence interval: 2.1–7.7]; P < 0.0004) in Group 1 and 4.3 ([2.6–7.1]; P < 0.0004) in Group 2, compared with Group 3. The odds ratios for individuals homozygous for the ARMS2 risk allele for Groups 1 and 2 compared with Group 3 were 16.3 ([7.6–35.4]; P < 0.0004) and 11.9 ([6.3–22.3]; P < 0.0004), respectively. None of the genotypes studied were more significantly associated to Group 1 than Group 2. Conclusion: Genotypes known to be associated with AMD were similarly observed in patients with and without RPD. We analyze the genetic and environmental factors associated with reticular pseudodrusen in age-related macular degeneration (AMD). Age-related macular degeneration patients with reticular pseudodrusen and AMD patients without reticular pseudodrusen share the same major genetic and environmental factors.