June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Genetic, environmental and phenotypic risk factors for progression of age-related macular degeneration
Author Affiliations & Notes
  • Vasilena Sitnilska
    Department of Ophthalmology, University of Cologne, Cologne, Germany
  • Eveline Kersten
    Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, Germany
  • Lebriz Altay
    Department of Ophthalmology, University of Cologne, Cologne, Germany
  • Tina Schick
    Department of Ophthalmology, University of Cologne, Cologne, Germany
  • Philip Enders
    Department of Ophthalmology, University of Cologne, Cologne, Germany
  • Carel C B Hoyng
    Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, Germany
  • Anneke I Den Hollander
    Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, Germany
  • Sascha Fauser
    Department of Ophthalmology, University of Cologne, Cologne, Germany
  • Footnotes
    Commercial Relationships   Vasilena Sitnilska, None; Eveline Kersten, None; Lebriz Altay, None; Tina Schick, None; Philip Enders, None; Carel Hoyng, None; Anneke Den Hollander, None; Sascha Fauser, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 176. doi:
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      Vasilena Sitnilska, Eveline Kersten, Lebriz Altay, Tina Schick, Philip Enders, Carel C B Hoyng, Anneke I Den Hollander, Sascha Fauser; Genetic, environmental and phenotypic risk factors for progression of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2017;58(8):176.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To develop a prediction model for the conversion of early to late age-related macular degeneration (AMD) including genetic, environmental and phenotypic risk factors (RF).

Methods : This case-control study included 123 subjects out of 337 early/intermediate AMD patients from European genetic database with minimum 5 years follow-up. AMD-Staging and phenotypic characteristics were based on color fundus photographs and spectral-domain optical coherence tomography (SD-OCT). Logistic regression analysis for progression to advanced AMD was performed separately for environmental, phenotypic and major genetic RFs (CFH rs1061170 and ARMS2 rs10490924). The conducted parsimonious prediction model was validated using receiving operating characteristics and Hosmer-Lemeshow test.

Results : During a mean follow-up time of 5.59 years 30 patients (24.4%) developed late AMD. Age (Odds Ratio (OR):1.10, p=0.004, 95% Confidence Interval (95%CI):1.03-1.18), CFH rs1061170(OR:4.20, p=0.001, 95%CI:1.80-9.76), drusenoid pigment epithelial detachment (dPED, OR:20.25, p=1.93x10-7, 95%CI:6.53-62.86), hyperreflective foci (HF) (OR:89.97, p=2.20x10-6, 95%CI: 13.97-579.62), central location of HF (OR:11.81, p=0.002, 95%CI:2.49-56.11), central drusen location (OR:10.83, p=8.70x10-5, 95%CI:3.30-35.60), reticular drusen (OR:6.25, p=0.002, 95%CI:2.02-19.40) and pigment abnormalities (OR:9.14, p=3.85x10-5, 95%CI:3.19-26.21) were independently associated with AMD-progression. The prediction model including age, CFH rs1061170, dPED and HF had the highest prognostic value for transition to late AMD (area under the curve:0.935) and showed an adequate calibration (Hesmer-Lemeshow test chi-quadrat=2.74, p=0.950).

Conclusions : Patients with simultaneous occurrence of dPED and HF in SD-OCT have an increased likelihood of progression to late AMD during 5 years. In those cases intensified monitoring seems advisable to detect conversion and treat as early as possible

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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