gms | German Medical Science

25th Annual Meeting of the German Retina Society

German Retina Society

01.06. - 02.06.2012, Münster

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Morphological characterisation of early AMD in homocygosity for polymorphisms associated with elevated risk of AMD: current results from the MARS study

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  • Martha Dietzel - Augenabteilung, St. Franziskus-Hospital, Münster; Institut für Epidemiologie, Universität Münster
  • B. Heimes - Augenabteilung, St. Franziskus-Hospital, Münster
  • D. Pauleikhoff - Augenabteilung, St. Franziskus-Hospital, Münster
  • H.-W. Hense - Institut für Epidemiologie, Universität Münster

German Retina Society. 25th Annual Conference of the German Retina Society. Münster, 01.-02.06.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12rg32

doi: 10.3205/12rg32, urn:nbn:de:0183-12rg329

This is the English version of the article.
The German version can be found at: http://www.egms.de/de/meetings/rg2012/12rg32.shtml

Published: May 30, 2012

© 2012 Dietzel et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

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Purpose: Defined single-nucleotide polymorphisms (SNP) in CFH and ARMS2 genes are risk factors for AMD. This study aims to assess the association between predefined genotypes and specific phenotypes in early AMD.

Methods: In the MARS study, 85 participants with early AMD were selected who were homozygous for the risk variant in CFH (rs1061170; n=43), homozygous for the risk variant in ARMS2 (rs10490924; n=22) or non-carrier of both SNPs (n=27). AMD was classified according to Rotterdam Study Classification using fundus photographs. Furthermore, the following parameters were determined: presence of peripheral drusen; and, by using SD-OCT, presence of macular drusen, number of drusen, macular choroidal and retinal thickness; and, by using fundus autofluorescence images, presence of reticular drusen. Findings were correlated with SNPs in CFH and ARMS2.

Results: Participants, who were homozygous for the SNP in CFH, but also in ARMS2, were significantly more affected by early AMD regarding drusen features detected by the macular SD-OCT scan, but also regarding the presence of reticular drusen and peripheral drusen, compared to non-carrier of both SNPs. The central choroid and central retina were thinner in genetically predisposed participants compared to non-carrier of both SNPs. This relationship was most pronounced in homozygous carrier of both SNPs.

Conclusions: The present study showed associations between SNPs in CFH and ARMS2 genes and specific morphological characteristics of early AMD. These results indicate that there are phenotypic differences regarding the morphology of the central retina, Bruch´s membrane and choroid, and the peripheral retina, in genetically predisposed patients with early AMD.