title: Prevalence and Genetic Characteristics of Geographic Atrophy among Elderly Japanese with Age-Related Macular Degeneration.
abstract: OBJECTIVE
  To investigate the prevalence and genetic characteristics of geographic atrophy (GA) among elderly Japanese with advanced age-related macular degeneration (AMD) in a clinic-based study.
  
  
  METHODS
  Two-hundred and ninety consecutive patients with advanced AMD were classified into typical neovascular AMD, polypoidal choroidal vasculopathy (PCV), retinal angiomatous proliferation (RAP) or geographic atrophy (GA). Genetic variants of ARMS2 A69S (rs10490924) and CFH I62V (rs800292) were genotyped using TaqMan Genotyping Assays. The clinical and genetic characteristics were compared between patients with and without GA.
  
  
  RESULTS
  The number of patients diagnosed as having typical neovascular AMD, PCV, RAP and GA were 98 (33.8%), 151 (52.1%), 22 (7.5%) and 19 (6.6%), respectively. Of 19 patients with GA, 13 patients (68.4%) had unilateral GA with exudative AMD in the contralateral eye. Patients with GA were significantly older, with a higher prevalence of reticular pseudodrusen, bilateral involvement of advanced AMD and T-allele frequency of ARMS2 A69S compared with those with typical AMD and PCV; although there were no differences in the genetic and clinical characteristics among patients with GA and RAP.
  
  
  CONCLUSIONS
  The prevalence of GA was 6.6% among elderly Japanese with AMD. Patients with GA and RAP exhibited genetic and clinical similarities.
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Sakurada
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Seigo
authors.initials: S
authors.lastname: Yoneyama
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sugiyama
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Naohiko
authors.initials: N
authors.lastname: Tanabe
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Kikushima
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mabuchi
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Atsuki
authors.initials: A
authors.lastname: Kume
authors.affiliation: Department of Epigenetics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Iijima
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging; D044466:Asian People / Q000235:genetics; D001766:Blindness / Q000209:etiology*; D002829:Choroid / Q000098:blood supply / Q000473:pathology; D020256:Choroidal Neovascularization / Q000473:pathology; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D057092:Geographic Atrophy / Q000145:classification / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C514392:ARMS2 protein, human; D011506:Proteins; C493611:CFI protein, human; D017244:Complement Factor I