Article Text

other Versions

Download PDFPDF
Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes
  1. L Ersoy1,2,
  2. T Schick1,2,
  3. D de Graft2,
  4. M Felsch3,
  5. CB Hoyng4,
  6. AI den Hollander4,5,
  7. B Kirchhof1,
  8. S Fauser1,
  9. S Liakopoulos1,2
  1. 1Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany
  2. 2Department of Ophthalmology, Cologne Image Reading Center, University Hospital of Cologne, Cologne, Germany
  3. 3Institute of Medical Statistics, Informatics and Epidemiology, University of Cologne, Cologne, Germany
  4. 4Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  5. 5Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  1. Correspondence to Dr Sandra Liakopoulos, Department of Ophthalmology, University Hospital of Cologne, Kerpener Strasse 62, Cologne 50924, Germany;


Background To evaluate the association of extramacular drusen (EMD) with age-related macular degeneration (AMD) and with complement factor H (CFH rs1061170) and age-related maculopathy susceptibility 2 (ARMS2 rs10490924) polymorphisms in individuals with and without AMD.

Methods In this case–control study, AMD staging was performed in 622 individuals. EMD were defined as ≥10 drusen (including ≥1 intermediate drusen) outside the Early Treatment of Diabetic Retinopathy Study Grid within field 2. Genotype associations for CFH and ARMS2 variants were assessed using logistic regression analysis.

Results EMD (n=213) showed a strong association with AMD (OR=3.85; p=1.66×10−13). AMD (n=316) was strongly associated with CFH (p=1.78×10−7) and ARMS2 genotypes (p=1.67×10−8). After adjustment for AMD, age and gender, EMD were neither associated with CFH (p=0.11) nor with ARMS2 (p=0.45) genotypes. In individuals without AMD, the groups with and without EMD showed no differences regarding both genetic variants.

Conclusions The strong association between drusen within and outside of the macula suggests a common pathogenesis. However, EMD were not AMD-independently associated with CFH or ARMS2 genotypes. Our results indicate that patients without AMD but with EMD can serve as controls in studies evaluating AMD risk factors. Further studies are required to elucidate the aetiology and clinical relevance of EMD.

  • Genetics
  • Macula
  • Imaging

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Linked Articles

  • At a glance
    Keith Barton James Chodosh Jost Jonas