Danial Mohabati, Rosa L Schellevis, Elon H C van Dijk, Sascha Fauser, Anneke I den Hollander, Carel B Hoyng, Eiko K De Jong, Suzanne Yzer, Camiel J F Boon

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PURPOSE: To study genetic predispositions and differences between severe chronic central serous chorioretinopathy (cCSC), nonsevere cCSC, and acute central serous chorioretinopathy (aCSC).

METHODS: One hundred seventy-three severe cCSC patients, 272 nonsevere cCSC patients, 135 aCSC patients, and 1,385 control individuals were included. Eight single-nucleotide polymorphisms were genotyped in the ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Additionally, C4B gene copy numbers were analyzed.

RESULTS: A significant association in 5 single-nucleotide polymorphisms in the CFH gene could be reproduced among severe cCSC patients, including rs800292 (P = 0.0014; odds ratio [OR] = 1.93; 95% confidence interval [CI] = 1.51-2.47), rs1065489 (P = 2.22 × 10; OR = 0.49; 95% CI = 0.34-0.72), rs1329428 (P = 0.001; OR = 1.89; 95% CI = 1.49-2.40), rs2284664 (P = 1.21× 10; OR = 1.65; 95% CI = 1.28-2.13), and rs3753394 (P = 6.10× 10; OR = 0.61; 95% CI = 0.46-0.81). Carrying three C4B copies was protective for severe cCSC (P = 0.001; OR = 0.29; 95% CI = 0.14-0.61). No significant differences in allele frequencies could be found among the CSC phenotypes.

CONCLUSION: Acute CSC, nonsevere cCSC, and severe cCSC all showed a similar association with the CFH and C4B genes, and the three phenotypes could not be distinguished based on the genetics. This shows that despite the differences in clinical presentation and severity, there is an overlap in the genetic predisposition of different CSC phenotypes. Nongenetic factors may play a more important role in determining the clinical course of CSC.

Original languageEnglish
Pages (from-to)1734-1741
Number of pages8
Issue number9
Publication statusPublished - Sep 2020

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    Mohabati, D., Schellevis, R. L., van Dijk, E. H. C., Fauser, S., den Hollander, A. I., Hoyng, C. B., De Jong, E. K., Yzer, S., & Boon, C. J. F. (2020). GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY. Retina, 40(9), 1734-1741.