Genetic risk factors in severe, nonsevere and acute phenotypes of central serous chorioretinopathy

Mohabati, D.; Schellevis, R.L.; Dijk, E.H.C. van; Fauser, S.; Hollander, A.I. den; Hoyng, C.B.; ... ; Boon, C.J.F. (2020)

Article / Letter to editor

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 theARMS2(rs10490924),CFH(rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), andNR3C2(rs2070951). Additionally,C4Bgene copy numbers were analyzed. Results: A significant association in 5 single-nucleotide polymorphisms in theCFHgene 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 x 10(-4); OR = 0.49; 95% CI = 0.34-0.72), rs1329428 (P= 0.001; OR = 1.89; 95% CI = 1.49-2.40), rs2284664 (P= 1.21x 10(-4); OR = 1.65; 95% CI = 1.28-2.13), and rs3753394 (P= 6.10x 10(-4); OR = 0.61; 95% CI = 0.46-0.81). Carrying threeC4Bcopies 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 theCFHandC4Bgenes, 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.

• acute central serous chorioretinopathy
• ARMS2
• chronic CSC
• complement factor H
• complement component 4
• genetic association
• severe CSC

• All authors: Mohabati, D.; Schellevis, R.L.; Dijk, E.H.C. van; Fauser, S.; Hollander, A.I. den; Hoyng, C.B.; Jong, E.K. de; Yzer, S.; Boon, C.J.F.
• Date: 2020-09-01
• Journal: RETINA, The Journal of Retinal and Vitreous Diseases
• Volume: 40
• Issue: 9
• Pages: 1734 - 1741
• DOI: doi:10.1097/IAE.0000000000002682
• Link: https://journals.lww.com/retinajournal/Fulltext/2020/09000/GENETIC_RISK_...