The Genetic Background of Central Serous Chorioretinopathy: A Review on Central Serous Chorioretinopathy Genes.
Ontology highlight
ABSTRACT:
SUBMITTER: Giannopoulos K
PROVIDER: S-EPMC7806452 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Bullous central serous chorioretinopathy (bCSCR) is a rare variant of the central serous chorioretinopathy, complicated by an exudative retinal detachment with shifting fluid. This systematic review aims to present the epidemiology, the pathogenesis, the clinical presentation, the imaging, the differential diagnosis, and the latest treatments of this disease. A total of 60 studies were identified following a literature search adhering to PRISMA guidelines. After full-text evaluation, 34 studies about bCSCR were included. bCSCR usually affects middle-aged men, and the principal risk factor is corticosteroid medications. Pathogenesis is related to an increased choroidal vessel and choriocapillaris permeability, with subsequent subretinal fluid accumulation, rich in fibrin, which may provoke the exudative retinal detachment. Clinical presentation and imaging are fundamental to distinguish bCSCR from other pathologies, avoiding unappropriated treatment. Corticosteroid withdraws (if assumed) and laser photocoagulation of leakage sites seen at angiography may speed up retinal reattachment. Verteporfin photodynamic therapy, transpupillary thermal therapy, oral eplerenone and scleral thinning surgery are other therapeutic options. An early diagnosis might prevent disease progression due to harmful medications as well as unnecessary surgery.
| S-EPMC7559580 | biostudies-literature
Project description:Central serous chorioretinopathy (CSCR) is a common chorioretinal disease characterized by serous retinal detachment that most commonly involves the macular region. Although the natural history of the acute form shows a self-limiting course, a significant number of patients suffer from recurrent episodes leading to chronic disease, often leaving patients with residual visual impairment. Visual morbidity is often worsened by a delay in the diagnosis due to the incorrect understanding of the particular biomarkers of the disease. The aim of this review is to provide clinical understanding of the biomarkers of CSCR with an emphasis on the most recent findings in patient demographics, risk factors, clinical imaging findings, and management options. Patients with these biomarkers, age 30-44 years, male gender, increased stress levels, hypercortisolism (endogenous and exogenous exposures), sleep disturbance, pregnancy, and genetic predisposition have increased susceptibility to CSCR. Also, biomarkers on optical coherence tomography (OCT) such as choroidal thickness (CT) and choroidal vascularity index (CVI) showed good diagnostic and prognostic significance in the management of CSCR. There are nonspecific features of CSCR on OCT and OCT angiography such as choroidal neovascularization, photoreceptor alteration/cone density loss, and flat irregular pigment epithelium detachment. We described rare complications of CSCR such as cystoid macular edema (CME) and cystoid macular degeneration (CMD). Patients with CME recovered some vision when treated with anti-vascular endothelial growth factors (anti-VEGFs). Patients with CMD had irreversible macular damage even after treatment with anti-VEGFs.
| S-EPMC7448152 | biostudies-literature
Project description:Currently, no general consensus exists regarding the management of central serous chorioretinopathy (CSC). Laser treatments include three different therapeutic approaches: conventional laser, subthreshold laser and photodynamic therapy. Conventional focal laser, addressed to seal the leaking points, as evidenced on fluorescein angiography, was largely used in the past, but now, it is almost completely abandoned, owing to the potential complications. Several studies confirmed the positive effects achieved by subthreshold laser treatment in CSC, even though its improper application in the PLACE trial has questioned the effectiveness.
| S-EPMC7692124 | biostudies-literature
Project description:PURPOSE: Central serous chorioretinopathy (CSCR) is an idiopathic disorder characterised by detachment of the neurosensory retina due to serous fluid accumulation between the photoreceptor outer segments and the retinal pigment epithelium. There are currently no set guidelines or protocols on its treatment. This study was undertaken to assess the current literature on the the efficacy and safety of photodynamic therapy (PDT) as a treatment option for CSCR. METHODS: Seven databases (PubMed, CENTRAL, MEDLINE, Web of Science, Embase, Scopus, and The Cochrane Database of Systematic Reviews) were searched without restrictions on time or location. We followed PRISMA guidelines and evaluated quality according to STROBE criteria. In total, 117 citations were identified and 31 studies describing 787 eyes were included for review. Data on indications for PDT in CSCR, dosing regimens of verteprofin PDT (which includes treatment dose of vertoporfin, treatment time, fluence, and spot size), number of treatment sessions, response to treatment, mean length of follow-up, and complications were extracted and analysed. RESULTS: Since the introduction of PDT for the treatment of CSCR in 2003, there have been three randomised controlled trials (RCTs), one for acute and two chronic CSCR and 28 further studies that met the STROBE criteria that compared the use of PDT with other treatment options. All studies showed short-term efficacy of PDT in CSCR. The studies were of small sample size and lacked sufficient follow-up to draw conclusions on long-term efficacy and safety. CONCLUSIONS: There is sufficient scientific evidence to suggest that PDT may be a useful treatment option for chronic CSCR in the short-term. The review identifies a need for robust RCTs with longer follow-up to ascertain the role of PDT as a useful treatment option for CSCR.
| S-EPMC4135258 | biostudies-other
Project description:To quantify retinal fluorescence lifetimes in patients with central serous chorioretinopathy (CSC) and to identify disease specific lifetime characteristics over the course of disease.Forty-seven participants were included in this study. Patients with central serous chorioretinopathy were imaged with fundus photography, fundus autofluorescence, optical coherence tomography, and fluorescence lifetime imaging ophthalmoscopy (FLIO) and compared with age-matched controls. Retinal autofluorescence was excited using a 473-nm blue laser light and emitted fluorescence light was detected in 2 distinct wavelengths channels (498-560 nm and 560-720 nm). Clinical features, mean retinal autofluorescence lifetimes, autofluorescence intensity, and corresponding optical coherence tomography (OCT) images were further analyzed.Thirty-five central serous chorioretinopathy patients with a mean visual acuity of 78 ETDRS letters (range, 50-90; mean Snellen equivalent: 20/32) and 12 age-matched controls were included. In the acute stage of central serous chorioretinopathy, retinal fluorescence lifetimes were shortened by 15% and 17% in the respective wavelength channels. Multiple linear regression analysis showed that fluorescence lifetimes were significantly influenced by the disease duration (P < 0.001) and accumulation of photoreceptor outer segments (P = 0.03) but independent of the presence or absence of subretinal fluid. Prolonged central macular autofluorescence lifetimes, particularly in eyes with retinal pigment epithelial atrophy, were associated with poor visual acuity.This study establishes that autofluorescence lifetime changes occurring in central serous chorioretinopathy exhibit explicit patterns which can be used to estimate perturbations of the outer retinal layers with a high degree of statistical significance.
| S-EPMC5690302 | biostudies-literature
Project description:PurposeA clear link between several variants in genes involved in the complement system and chronic central serous chorioretinopathy (CSC) has been described. In age-related macular degeneration, a disease that shows clinical features that overlap with CSC, both genetic risk factors and systemic activation of the complement system have previously been found. In this case-control study, we assessed whether there is evidence of either systemic activation or inhibition of the complement system in patients with chronic CSC.MethodsA prospective case-control study of 76 typical chronic CSC patients and 29 controls without ophthalmological history was conducted. Complement activity assays (classical, alternative, and mannose-binding lectin pathway), complement factors 3, 4, 4A, 4B, B, D, H, I, and P, activation products C3d, C5a, and sC5b-C9, and the C3d/C3 ratio were analysed in either serum or plasma. A correction for possible effects of gender, age, body mass index, and smoking status was performed.ResultsIn this study, none of the tested variables, including regulation and activation products, proved to be significantly different between the groups. Moreover, no associations with either CSC disease activity or possible CSC related steroid use were observed.ConclusionDespite the available literature regarding a possible relationship between chronic CSC and variants in genes involved in the complement system, we did not find evidence of an association of chronic CSC with either systemic complement activation or inhibition.
| S-EPMC5495432 | biostudies-literature
Project description:PurposeTo study genetic predispositions and differences between severe chronic central serous chorioretinopathy (cCSC), nonsevere cCSC, and acute central serous chorioretinopathy (aCSC).MethodsOne 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.ResultsA 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.ConclusionAcute 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.
| S-EPMC7447124 | biostudies-literature
Project description:Purpose: To predict central serous chorioretinopathy (CSC) recurrence 3 and 6 months after laser treatment by using machine learning. Methods: Clinical and imaging features of 461 patients (480 eyes) with CSC were collected at Zhongshan Ophthalmic Center (ZOC) and Xiamen Eye Center (XEC). The ZOC data (416 eyes of 401 patients) were used as the training dataset and the internal test dataset, while the XEC data (64 eyes of 60 patients) were used as the external test dataset. Six different machine learning algorithms and an ensemble model were trained to predict recurrence in patients with CSC. After completing the initial detailed investigation, we designed a simplified model using only clinical data and OCT features. Results: The ensemble model exhibited the best performance among the six algorithms, with accuracies of 0.941 (internal test dataset) and 0.970 (external test dataset) at 3 months and 0.903 (internal test dataset) and 1.000 (external test dataset) at 6 months. The simplified model showed a comparable level of predictive power. Conclusion: Machine learning achieves high accuracies in predicting the recurrence of CSC patients. The application of an intelligent recurrence prediction model for patients with CSC can potentially facilitate recurrence factor identification and precise individualized interventions.
| S-EPMC8656454 | biostudies-literature
Project description:Central serous chorioretinopathy is a disease that is partly understood. Novel advancements have led to further understanding of the disease, and have identified choroidal dysfunction as the principal element in CSCR development. New imaging tools have aided in better monitoring disease response to various treatment models. Enhanced depth imaging optical coherence tomography, in particular, has helped in observing choroidal thickness changes after various treatment models. To date, photodynamic therapy and focal laser remain the main stay of treatment. More understanding of disease pathophysiology in the future will help in determining the drug of choice and the best management option for such cases.
| S-EPMC4625218 | biostudies-literature
Project description:Chronic central serous chorioretinopathy (cCSC) is a multifactorial eye disease characterized by subretinal fluid accumulation that leads to vision loss. Clinically, cCSC is associated with stress, hypercortisolism and corticosteroid use, and is more frequent in males (80%) than in females (20%). Current genetic studies on cCSC have thus far focussed on common variants, but familial occurrence of cCSC also suggests a role for rare variants in the disease susceptibility. Therefore, in this study, we performed exome sequencing of cCSC patients to elucidate the role of rare (protein-altering) variants in the disease. Exome sequencing was performed on 269 cCSC patients and 1,586 controls. Data were processed according to the Genome-Analysis-Toolkit (GATK) best practices. Principal component analysis was performed to check for genetic ancestry and only unrelated subjects of European descent were retained. Burden, SKAT and SKAT-O tests were performed using 2 different grouping criteria. One group included protein-altering variants only, while the other contained synonymous and splice site variants as well. The gene-based analyses were performed using the SKAT R-package correcting for two principal components using two approaches; (1) on the entire cohort correcting for sex and (2) on males and females separately. Additionally, the gene-based associations of genes at previously reported cCSC loci were investigated. After filtering, the dataset contained 263 cCSC patients (208 males [79%]) and 1352 controls (671 males [50%]) carrying 197,915 protein-altering variants in 16,370 genes and 330,689 exonic variants in 18,173 genes. Analysis stratified by sex identified significant associations with the PIGZ (PSKAT?=?9.19?×?10-7 & PSKAT-O?=?2.48?×?10-6), DUOX1 (PSKAT?=?1.03?×?10-6), RSAD1 (PSKAT?=?1.92?×?10-7 & PSKAT-O?=?8.57?×?10-8) and LAMB3 (PBurden?=?1.40?×?10-6 & PSKAT-O?=?1.14?×?10-6) genes in female cCSC patients, after correction for multiple testing. The number of rare variant carriers in these genes was significantly higher in the female cCSC cohort compared to female controls (45,5% vs. 18.5%, P?=?1.92?×?10-6, OR?=?3.67 [95% CI?=?2.09-6.46]). No significant associations were identified in the entire cohort nor in the male patients. In this exome study on cCSC patients, we have identified PIGZ, DUOX1, RSAD1 and LAMB3 as potential new candidate genes for cCSC in females. The sex-specific associations identified here suggest a possible interaction between rare genetic factors and sex for cCSC, but replication of these findings in additional cohorts of cCSC patients is necessary.
| S-EPMC6488596 | biostudies-literature