PMID- 27521170 OWN - NLM STAT- MEDLINE DCOM- 20170626 LR - 20180209 IS - 1549-4713 (Electronic) IS - 0161-6420 (Linking) VI - 123 IP - 10 DP - 2016 Oct TI - Clinical and Genetic Characteristics of Japanese Patients with Age-Related Macular Degeneration and Pseudodrusen. PG - 2205-12 LID - S0161-6420(16)30584-X [pii] LID - 10.1016/j.ophtha.2016.06.052 [doi] AB - 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 dot-dominant 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 dot-dominant 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 CFH I62V polymorphisms may have an association with pseudodrusen subtypes. CI - Copyright (c) 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved. FAU - Elfandi, Sufian AU - Elfandi S AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Ooto, Sotaro AU - Ooto S AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: ohoto@kuhp.kyoto-u.ac.jp. FAU - Ueda-Arakawa, Naoko AU - Ueda-Arakawa N AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Takahashi, Ayako AU - Takahashi A AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Yoshikawa, Munemitsu AU - Yoshikawa M AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Nakanishi, Hideo AU - Nakanishi H AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Tamura, Hiroshi AU - Tamura H AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Oishi, Akio AU - Oishi A AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Yamashiro, Kenji AU - Yamashiro K AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. FAU - Yoshimura, Nagahisa AU - Yoshimura N AD - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. LA - eng PT - Journal Article PT - Observational Study PT - Research Support, Non-U.S. Gov't DEP - 20160809 PL - United States TA - Ophthalmology JT - Ophthalmology JID - 7802443 RN - 0 (Eye Proteins) RN - 9007-49-2 (DNA) SB - IM MH - Aged MH - Aged, 80 and over MH - DNA/analysis MH - Eye Proteins/*genetics/metabolism MH - Female MH - Fluorescein Angiography/*methods MH - Follow-Up Studies MH - Fundus Oculi MH - Genetic Testing/*methods MH - Genotype MH - Humans MH - Incidence MH - Japan/epidemiology MH - Macula Lutea/*pathology MH - Macular Degeneration/*diagnosis/epidemiology/genetics MH - Male MH - Ophthalmoscopy MH - Retinal Drusen/*diagnosis/epidemiology/genetics MH - Retrospective Studies MH - Tomography, Optical Coherence/*methods EDAT- 2016/08/16 06:00 MHDA- 2017/06/27 06:00 CRDT- 2016/08/14 06:00 PHST- 2016/03/10 00:00 [received] PHST- 2016/06/20 00:00 [revised] PHST- 2016/06/21 00:00 [accepted] PHST- 2016/08/14 06:00 [entrez] PHST- 2016/08/16 06:00 [pubmed] PHST- 2017/06/27 06:00 [medline] AID - S0161-6420(16)30584-X [pii] AID - 10.1016/j.ophtha.2016.06.052 [doi] PST - ppublish SO - Ophthalmology. 2016 Oct;123(10):2205-12. doi: 10.1016/j.ophtha.2016.06.052. Epub 2016 Aug 9.