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Chronic central serous chorioretinopathy- genetic associations and genotype-phenotype correlations

Session Details

Session Title: FP-15 Vascular Diseases and Diabetic Retinopathy V

Session Date/Time: Sunday 14/09/2014 | 08:00-10:00

Paper Time: 08:56

Venue: Boulevard D

First Author: : C.J.F.Boon THE NETHERLANDS

Co Author(s): :    E.K. de Jong   M.B. Breukink   R. Schellevis   J.E.E. Keunen   C.B. Hoyng   A.I. den Hollander

Abstract Details


To analyse possible association of single nucleotide polymorphisms (SNPs) in the CFH and ARMS2 gene with chronic central serous chorioretinopathy (cCSC).


Tertiary referral centre in the Netherlands.


Genetic analysis of SNPs in the CFH and ARMS2 gene in 210 cCSC cases and 810 control subjects. Phenotyping of cCSC based on extensive ophthalmic examination, categorizing patients into a 'typical' or 'atypical' cCSC group.


After statistical correction for multiple testing, we found a significant association of cCSC with the CFH SNPs rs800292 (exon 2; I62V; p=0.001), rs2284664 (intron 15; p=0.009), rs1329428 (intron 15; p=0.001), rs1065489 (exon 18; D936E; p=0.003). Analysis of allele frequencies in typical versus atypical cCSC showed a statistically significant difference of association of the CFH rs800292 (exon 2; I62V; p=0.002), as well as the age-related macular degeneration risk SNPs rs1061170 (exon 9; Y402H; p=0.003) and rs10490924 (ARMS2 - exon 1; A69S; p=0.002).


Chronic central serous chorioretinopathy is associated with specific genetic variants in the CFH and ARMS2 gene. Moreover, there appears to be a certain degree of genotype-phenotypes correlation in cCSC.

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