Purpose: To study genetic predispositions and differences between severe chronic central serous chorioretinopathy (cCSC), nonsevere cCSC, and acute central serous chorioretinopathy (aCSC). Methods:... Show morePurpose: 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. Show less
Purpose: To study the risk of recurrence in acute central serous chorioretinopathy (aCSC) and to evaluate the risk of transitioning to chronic CSC.Patients and Methods: The medical records and... Show morePurpose: To study the risk of recurrence in acute central serous chorioretinopathy (aCSC) and to evaluate the risk of transitioning to chronic CSC.Patients and Methods: The medical records and multimodal imaging data of 295 aCSC cases were reviewed. Typical aCSC was defined as the presence of serous subretinal fluid (SRF), one focal leakage spot on fluorescein angiography (FA), retinal pigment epithelium (RPE) alterations limited in area to less than one optic disc diameter, and complete recovery from this first CSC episode. An increase in RPE alterations combined with persistent SRF was considered a sign of chronicity, which was determined in cases with >12 months follow-up. The main outcome measures included final visual acuity, percentage of disease recurrence, and percentage of cases moving toward a chronic phenotype. Treatment strategies and their efficacy were also reviewed.Results: A total of 295 eyes in 291 patients with aCSC were included. Spontaneous recovery was awaited in 154 eyes (52%), whereas 141 eyes (48%) recovered following treatment. SRF recurrence occurred in 24% of untreated cases and in 4% of treated cases (p<0.001). An analysis of 61 eyes that underwent an FA after >= 12 months of follow-up revealed increased RPE alterations in 22 eyes (36%), and 14 eyes (23%) had both an increase in RPE alterations and SRF recurrence.Conclusion: All aCSC cases recovered from the first disease episode, and none of the cases developed persistent SRF leakage. Among the cases for which long-term follow-up information was available, 36% showed a tendency toward chronicity in terms of increased RPE alterations, whereas 23% showed both an increase in RPE alterations and recurrent SRF. Early photodynamic therapy (PDT) may decrease the risk of recurrences. Show less
Purpose: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).Methods: A... Show morePurpose: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).Methods: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed.Results: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 x 10(-6), odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients.Conclusion: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC. Show less
