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Risk characteristics of the combined geographic atrophy and choroidal neovascularisation phenotype in age-related macular degeneration
  1. Celine Saade1,
  2. Bhaskar Ganti1,
  3. Michael Marmor2,3,4,
  4. K Bailey Freund1,5,6,7,
  5. R Theodore Smith1
  1. 1Department of Ophthalmology, New York University School of Medicine, New York, New York, USA
  2. 2Department of Population Health, New York University School of Medicine, New York, New York, USA
  3. 3Department of Environmental Medicine, New York University School of Medicine, New York, New York, USA
  4. 4Department of Medicine, New York University School of Medicine, New York, New York, USA
  5. 5Department of Ophthalmology, Columbia University, New York, New York, USA
  6. 6Vitreous Retina Macula Consultants of New York, New York, New York, USA
  7. 7LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York, USA
  1. Correspondence to Dr R Theodore Smith, Department of Ophthalmology, New York University Langone Medical Center, 462 First Avenue—NBV 5N18, New York, NY 10016, USA; roland.smith{at}nyumc.org

Abstract

Aim 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.

  • Macula
  • Neovascularisation

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