title: Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  This study included 216 consecutive patients with late AMD (typical AMD, polypoidal choroidal vasculopathy [PCV], retinal angiomatous proliferation [RAP], or geographic atrophy). Eyes were assessed for reticular pseudodrusen using the blue channel of color fundus photography, infrared reflectance, fundus autofluorescence, and spectral-domain optical coherence tomography. The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and ARMS2 A69S rs10490924) were genotyped.
  
  
  RESULTS
  Forty-nine eyes of 30 patients had a reticular pattern in ≥2 imaging modalities and were diagnosed with reticular pseudodrusen. Of these, 16 had bilateral late AMD, whereas 32 of 186 patients without reticular pseudodrusen had bilateral late AMD (P < .001). The prevalence of reticular pseudodrusen was 83% in RAP, 50% in geographic atrophy, 9% in typical AMD, and 2% in PCV. The frequency of the T allele in ARMS2 A69S in patients with and without reticular pseudodrusen was 78.6% and 59.9%, respectively (P=.007).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Ueda-Arakawa
authors.forename: Sotaro
authors.initials: S
authors.lastname: Ooto
authors.forename: Isao
authors.initials: I
authors.lastname: Nakata
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamashiro
authors.forename: Akitaka
authors.initials: A
authors.lastname: Tsujikawa
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015862:Choroid Diseases / Q000453:epidemiology; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D023281:Genomics; D005838:Genotype; D057092:Geographic Atrophy / Q000453:epidemiology; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000453:epidemiology; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D015593:Retinal Drusen / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015861:Retinal Neovascularization / Q000453:epidemiology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H