title: Risk characteristics of the combined geographic atrophy and choroidal neovascularisation phenotype in age-related macular degeneration.
abstract: OBJECTIVE
  To investigate the risk characteristics of the combined geographic atrophy (GA) and choroidal neovascularisation (CNV) phenotype of age-related macular degeneration (AMD) compared to GA or CNV.
  
  
  METHODS
  Patients with advanced AMD were identified and divided into three groups using multimodal imaging: patients with GA in at least one eye, patients with CNV in at least one eye, and patients with simultaneous GA and CNV in at least one eye. Epidemiologic and clinical factors were gathered from patient questionnaires. Genotypes for age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) were determined.
  
  
  RESULTS
  42 patients with GA or CNV, and 16 patients with combined GA/CNV were identified. Patients with the combined phenotype were older (86.4 vs 81.8 years, p=0.049), and had a higher prevalence of advanced AMD in the fellow eye (81.3% vs 31.0%, p<0.001). CFH and ARMS2 risk alleles were not associated with the combined phenotype.
  
  
  CONCLUSIONS
  The combined GA/CNV phenotype has similar epidemiologic, clinical, and genetic features as GA and CNV, but occurs at an older age and is more associated with advanced AMD in the fellow eye, suggesting that all these phenotypes are part of the same spectrum of disease and that the combined phenotype represents an even more advanced form of AMD than either GA or CNV.
authors.affiliation: Department of Ophthalmology, New York University School of Medicine, New York, New York, USA.
authors.forename: Celine
authors.initials: C
authors.lastname: Saade
authors.affiliation: Department of Ophthalmology, New York University School of Medicine, New York, New York, USA.
authors.forename: Bhaskar
authors.initials: B
authors.lastname: Ganti
authors.affiliation: Department of Population Health, New York University School of Medicine, New York, New York, USA Department of Environmental Medicine, New York University School of Medicine, New York, New York, USA Department of Medicine, New York University School of Medicine, New York, New York, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Marmor
authors.affiliation: Department of Ophthalmology, New York University School of Medicine, New York, New York, USA Department of Ophthalmology, Columbia University, New York, New York, USA Vitreous Retina Macula Consultants of New York, New York, New York, USA LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York, USA.
authors.forename: K Bailey
authors.initials: KB
authors.lastname: Freund
authors.affiliation: Department of Ophthalmology, New York University School of Medicine, New York, New York, USA.
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D004396:Coloring Agents; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D057092:Geographic Atrophy / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007208:Indocyanine Green; D008268:Macular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D011506:Proteins / Q000235:genetics; D012307:Risk Factors; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D004396:Coloring Agents; D011506:Proteins; D017242:Complement Factor H; D007208:Indocyanine Green
keywords: Macula; Neovascularisation
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