Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

Felix Grassmann, Monika Fleckenstein, Emily Y. Chew, Tobias Strunz, Steffen Schmitz-Valckenberg, Arno P. Göbel, Michael L. Klein, Rinki Ratnapriya, Anand Swaroop, Frank G. Holz, Bernhard H.F. Weber

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60 Citations (Scopus)


Worldwide, age-related macular degeneration (AMD) is a serious threat to vision loss in individuals over 50 years of age with a pooled prevalence of approximately 9%. For 2020, the number of people afflicted with this condition is estimated to reach 200 million. While AMD lesions presenting as geographic atrophy (GA) show high inter-individual variability, only little is known about prognostic factors. Here, we aimed to elucidate the contribution of clinical, demographic and genetic factors on GA progression. Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a significant and independent contribution of three factors on GA lesion growth including at least two genetic factors (ARMS2-rs10490924 [P < 0.00088] and C3-rs2230199 [P < 0.00015]) as well as one clinical component (presence of GA in the fellow eye [P < 0.00023]). These correlations jointly explain up to 7.2% of the observed inter-individual variance in GA lesion progression and should be considered in strategy planning of interventional clinical trials aimed at evaluating novel treatment options in advanced GA due to AMD.

Original languageEnglish
Article numbere0126636
JournalPloS ONE
Issue number5
Publication statusPublished - 11 May 2015

Bibliographical note

We thank the patients and control individuals for their participation in the study, Kerstin Meier and Jürgen Kaschkötö (Institute of Human Genetics, University of Regensburg) for their technical support, and the FAM-Study Group for providing patients and controls. This study was supported in parts by the Deutsche Forschungsgemeinschaft (WE 1259/19-2 to BHFW), the Alcon Research Institute (to BHFW, EYC and AS), the Intramural Research program of the National Eye Institute (EYC and AS), and by grants from the National Eye Institute, National Institutes of Health, Bethesda, MD (R01-EY021532 to MLK).


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