April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
CFH, ARMS2 and C3 Confer Risk for Susceptibility but Not for Disease Progression of Geographic Atrophy Due to Age-Related Macular Degeneration
H. P. Scholl; M. Fleckenstein; L. G. Fritsche; S. Schmitz-Valckenberg; C. N. Keilhauer; C. Adrion; U. Mansmann; F. G. Holz; T. Becker; B. H. Weber
Author Affiliations & Notes
  • H. P. Scholl
    Dept of Ophthalmology,
    University of Bonn, Bonn, Germany
  • M. Fleckenstein
    Dept of Ophthalmology,
    University of Bonn, Bonn, Germany
  • L. G. Fritsche
    Institute for Human Genetics, University of Regensburg, Regensburg, Germany
  • S. Schmitz-Valckenberg
    Dept of Ophthalmology,
    University of Bonn, Bonn, Germany
  • C. N. Keilhauer
    Dept of Ophthalmology, University of Würzburg, Bonn, Germany
  • C. Adrion
    Dept of Medical Informatics, Biometry and Epidemiology, Ludwig Maximilians University München, München, Germany
  • U. Mansmann
    Dept of Medical Informatics, Biometry and Epidemiology, Ludwig Maximilians University München, München, Germany
  • F. G. Holz
    Dept of Ophthalmology,
    University of Bonn, Bonn, Germany
  • T. Becker
    Institute for Medical Biometry, Informatics and Epidemiology,
    University of Bonn, Bonn, Germany
  • B. H. Weber
    Institute for Human Genetics, University of Regensburg, Regensburg, Germany
  • Footnotes
    Commercial Relationships  H.P. Scholl, None; M. Fleckenstein, None; L.G. Fritsche, None; S. Schmitz-Valckenberg, None; C.N. Keilhauer, None; C. Adrion, None; U. Mansmann, None; F.G. Holz, None; T. Becker, None; B.H. Weber, None.
  • Footnotes
    Support  European Commission (EU FP6) "EVIGENORET" (LSHG-CT-2005-512036); DFG SCHO 734/2-1, SPP1088, HO1926/1-3 and WE1259/18-1; Ruth and Milton Steinbach Foundation New York and the Alcon Research Institute.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 1598. doi:
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      H. P. Scholl, M. Fleckenstein, L. G. Fritsche, S. Schmitz-Valckenberg, C. N. Keilhauer, C. Adrion, U. Mansmann, F. G. Holz, T. Becker, B. H. Weber; CFH, ARMS2 and C3 Confer Risk for Susceptibility but Not for Disease Progression of Geographic Atrophy Due to Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1598.

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Abstract

Purpose: : Age-related macular degeneration (AMD) is the most prevalent cause of blindness in industrialized societies. Variants in the complement factor H (CFH), the complement component 3 (C3) and the age-related maculopathy susceptibility 2 (ARMS2) genes have been established to confer significant risks for disease susceptibility. Their role for disease progression and thus their significance for developing therapeutic intervention was investigated.

Methods: : We tested for an association between genetic variants in CFH, C3 and ARMS2 and disease progression of late atrophic AMD (geographic atrophy). Patients were selected from the multicenter FAM study cohort (n=619) and compared with 612 controls. Patients were investigated by fundus autofluorescence imaging. A quantitative phenotype of disease progression was computed based on longitudinal observations.

Results: : In a subset of 99 cases with pure bilateral geographic atrophy, variants in CFH (Y402H), ARMS2 (A69S) and C3 (R102G) were strongly associated with disease (P=1.6x10-9, P=2.6x10-12, and 3.2x10-3, respectively). Median progression rate of geographic atrophy over a mean follow-up of 3.0 years was 1.61 mm2/year with high concordance between the two eyes. Despite sufficient power, no association between the progression rate and the genetic risk variants at the three loci was observed (P>0.13).

Conclusions: : Variants at CFH, C3, and ARMS2 confer high risks for geographic atrophy, but not for disease progression. As a consequence, therapeutic options specifically addressing the three susceptibility factors may not be helpful to alleviate disease progression once late atrophic AMD has developed. Other so far unknown susceptibility factors may be involved.

Clinical Trial: : www.clinicaltrials.gov NCT00393692

Keywords: age-related macular degeneration • genetics • imaging/image analysis: clinical 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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