Clinical and Genetic Characteristics of Japanese Patients with Age-Related Macular Degeneration and Pseudodrusen

Purpose: To investigate differences in clinical characteristics and genotype distribution in Japanese patients with age-related macular degeneration (AMD) and pseudodrusen using multimodal imaging. Design: Retrospective, observational case series. Participants: A total of 101 patients (101 eyes) with AMD and pseudodrusen. Methods: Patients underwent complete ophthalmologic examination, including color fundus photography, infrared reflectance (IR) imaging, fundus autofluorescence, confocal blue reflectance, fluorescein and indocyanine green (ICG) angiography, and spectral-domain optical coherence tomography (SD OCT). Pseudodrusen subtype was identified with multiple imaging techniques. Patients were genotyped to identify major single nucleotide polymorphisms associated with AMD (CFH Y402, CFH I62V, and ARMS2 A69S). Main Outcome Measures: Clinical characteristics and genetic distributions of patients with pseudodrusen. Results: At least 1 imaging technique identified dot pseudodrusen in all 101 eyes and ribbon pseudodrusen in 53 eyes (52.5%). Forty-eight eyes (47.5%) had only dot pseudodrusen, but no eyes had only ribbon pseudodrusen or midperipheral drusen. Forty-five of 49 bilateral cases (91.8%) had the same pseudodrusen subtype in both eyes. Pseudodrusen subtype did not change during the observation period in 100 eyes (99.0%), but dotdominant type changed to dot-ribbon type in 1 eye (1.0%). The dot and ribbon subtypes were detected in 84 (83.1%) and 51 (96.2%) eyes, respectively, using color fundus photographs. Detection sensitivity of dot pseudodrusen was high for IR (97.0%), confocal blue reflectance (95.1%), fundus autofluorescence (93.1%), and ICG (100%) imaging. Detection sensitivity for ribbon pseudodrusen was high for color fundus photography (96.2%), confocal blue reflectance (94.3%), and fundus autofluorescence (90.6%), but not for IR imaging and ICG angiography. Risk allele frequency of the CFH I62V polymorphism was 79.8% and 67.0% in patients with dotdominant and dot-ribbon pseudodrusen, respectively (P = 0.053). The genotype frequency of CFH Y402H and ARMS2 A69S polymorphisms was not significantly different between the patients with dot-dominant type and dot-ribbon type (P = 0.647 and P = 0.354, respectively). Conclusions: Patients with pseudodrusen can be classified with dot-dominant or dot-ribbon type, and these subtypes usually are the same in both eyes. The distribution of CFHI62V polymorphisms may have an association with pseudodrusen subtypes. (C) 2016 by the American Academy of Ophthalmology.