A Closer Look at the Prevalence and Genomic Association of Pseudodrusen in AMD
In Japan, researchers conducted a retrospective case series to survey the prevalence of reticular pseudodrusen in late age-related macular degeneration (AMD) using multiple imaging methods, and to investigate the association between reticular pseudodrusen and polymorphisms in complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genes.
They included 216 consecutive patients with late AMD (typical AMD, polypoidal choroidal vasculopathy [PCV], retinal angiomatous proliferation [RAP] or geographic atrophy [GA]) in the study. They assessed eyes for reticular pseudodrusen using the blue channel of color fundus photography, infrared reflectance, fundus autofluorescence and spectral-domain optical coherence tomography. Additionally, they genotyped the major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292 and ARMS2 A69S rs10490024).
A total of 49 eyes of 30 patients had a reticular pattern in two or more imaging modalities and were diagnosed with reticular pseudodrusen, the researchers observed. Of these, they noted that 16 patients had bilateral late AMD, whereas 32 of 186 patients without reticular pseudodrusen had bilateral late AMD (p<.001). They determined that the prevalence of reticular psuedodrusen was 83% in RAP, 50% in GA, 9% in typical AMD and 2% in PCV. Furthermore, the frequency of the T allele in ARMS A69S in patients with and without reticular pseudodrusen was 78.6% and 59.9%, respectively (p=.007).
To conclude, the prevalence of reticular pseudodrusen was low in PCV cases. About 50% of patients with reticular pseudodrusen had bilateral late AMD. The connection of ARMS2 risk allele and reticular pseudodrusen was confirmed in a Japanese population.