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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

Purpose:

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

Setting:

Tertiary referral centre in the Netherlands.

Methods:

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.

Results:

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).

Conclusions:

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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