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VI. International Symposium on AMD – Age-Related Macular Degeneration – Emerging Concepts – Exploring known and Identifying new Pathways

11. - 12.09.2015, Baden-Baden

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Correlation between morphological and functional changes in patients with early AMD and the presence of risk polymorphisms in CFH- and ARMS2 genes

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  • Michael Oeverhaus - Münster
  • M. Dietzel - Marburg
  • V. Meyer zu Westrup - Münster
  • D. Pauleikhof - Münster
  • H.W. Hense - Münster

VI. International Symposium on AMD – Age-Related Macular Degeneration – Emerging Concepts – Exploring known and Identifying new Pathways. Baden-Baden, 11.-12.09.2015. Düsseldorf: German Medical Science GMS Publishing House; 2015. Doc15amd05

doi: 10.3205/15amd05, urn:nbn:de:0183-15amd053

Published: October 1, 2015

© 2015 Oeverhaus et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

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Background: Genetic factors contribute to the development and progression of age-related macular degeneration (AMD). We aimed to assess the association of morphological and functional alterations caused by early AMD with polymorphisms in the CFH and ARMS2 genes.

Methods: As part of the Münster Aging and Retina Study (MARS) we examined 87 patients with early AMD (mean age 78 y) by use of OCT (Spectralis), EDI-OCT, fundus photograph, fundus autofluorescence imaging and microperimetry (Nidek). We determined the stage of AMD in the study eyes by means of the international fundus classification and implemented 4 subgroups: Homozygous patients for polymorphism rs1061170 in CFH-gene (n= 43), homozygous for rs10490924 in ARMS2-gene (n=22), homozygous for both single nucleotide polymorphisms (n=7) and a non-carrier group for both SNPs (n=27). We regarded over 40 different qualitative and quantitative parameters to determine a detailed phenotype of the study eyes. The functional changes were assessed by macular microperimetry and analysis of the mean retinal sensitivity.

Results: Patients with risk polymorphisms showed significant differences in the thickness of choroidea and retina in comparison to patients without them. The non-carrier subgroup showed the thickest retina and choroid. Patients with the CFH polymorphism had a significant thinner choroid and retina (p < 0,05 vs non-carrier). These layers were even thinner in patients with the SNP in ARMS2 (p < 0,05 vs non-carrier). This trend was also observable in patients with both SNPs who showed the thinnest retina and choroid (p < 0,05 vs non-carrier) being associated with minor retinal sensitivity in microperimetry

Conclusion: Already known risk polymorphisms in the CFH and ARMS2 genes are significantly associated with morphological alterations in eyes with early AMD and not only with the progression to late AMD. Pathological changes are visible long before progression to late AMD and subjective limitations experience. These results lead to the conclusion that these SNPs are also crucial for understanding the pathogenesis of early AMD.