Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.
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ABSTRACT:
SUBMITTER: Kiraly P
PROVIDER: S-EPMC8774639 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:ObjectivesTo investigate the association of two different single nucleotide polymorphisms (SNPs) in the complement factor H (CFH) gene with central serous chorioretinopathy (CSCR) in the Iranian population.MethodsThis is a case-control study with 95 participants in each group who were stratified according to their various ethnical variations. Primers for rs1329428 and rs3753394 polymorphisms were synthesized. DNA was extracted from peripheral blood leukocytes and underwent PCR and high-resolution melt analysis.ResultsThe frequency of tt, ct, and cc genotypes for rs1329428 polymorphism was 22 (26.5%), 46 (55.4%), and 15 (18.1%) in acute CSCR and 5 (41.7%), 5 (41.7%), and 2 (16.7%) in chronic CSCR respectively with no significant difference between case and control groups. The frequency of tt, ct, and cc genotypes for rs3753394 polymorphism was 31 (37.3%), 14 (16.9%), and 38 (45.8%) in acute CSCR and 4 (33.3%), 3 (25%), and 5 (41.7%) in chronic CSCR respectively. There was a significant difference between patients of Persian descent and controls in rs3753394 polymorphism (P = 0.00, chi-square test). There was no statistical difference in the frequency of polymorphism between acute and chronic patients (P = 0.64 and P = 0.79 respectively, chi-square test).ConclusionsThe rs3753394 polymorphism is probably associated with CSCR in Persian ethnicity. Further studies are required to validate the implications of this finding in clinical practice.
| S-EPMC9046259 | biostudies-literature
Project description:Central serous chorioretinopathy is characterized by neurosensory detachment of the central retina secondary to fluid leakage through the retinal pigment epithelium. Though it has an incidence of 9,9 per 100.000 in men and 1,7 per 100.000 in women, it is the fourth most common retinal disorder. Central serous chorioretinopathy patients present with blurred vision, central scotoma, metamorphopsia, micropsia and mild color discrimination. It is usually a self-limited disorder with nearly none or minimal visual impairment but in some patients the disease persists and may cause severe visual impairment. Central serous chorioretinopathy pathophysiology is not well understood. Choroid, retinal pigment epithelium and hormonal pathways seem to play important roles in central serous chorioretinopathy pathophysiology. Also, familial cases of the disease indicate that there is a genetic background. The identification of certain disease genes could lead to the development of better diagnostic and therapeutic approaches for central serous chorioretinopathy patients.
| S-EPMC7806452 | biostudies-literature
Project description:Central serous chorioretinopathy (CSC) has remained an enigmatic disease since its initial description by Von Graefe. Over the years, multiple risk factors have been recognized: these include psychological stress, behavioral traits, and corticosteroids. The basic pathophysiology of CSC involves choroidal thickening, vascular congestion, altered choroidal blood flow (ChBF), and choroidal hyperpermeability, leading to retinal pigment epithelium decompensation and subsequent neurosensory detachment. Multiple organ systems, mainly the nervous, cardiovascular, endocrinal, and renal systems participate in the control of the vascular tone and the ChBF via hypothalamus-pituitary-adrenal axis and renin-angiotensin-aldosterone system, while others such as the hepatic system regulate the enzymatic degradation of corticosteroids. Many vasoactive and psychotropic drugs also modulate the ocular perfusion. In addition, there are anatomical and genetic predispositions that determine its progression to the chronic or recurrent form, through cellular response and angiogenesis. We herein review the basic pathophysiology and immunogenetics in CSC along with the role of multiple organ systems. With this background, we propose an etiological classification that should provide a framework for customized therapeutic interventions.
| S-EPMC9843580 | 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: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: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
Project description:To evaluate the prevalence and clinical features of focal choroidal excavation (FCE) in patients presenting with central serous chorioretinopathy (CSC).This is a retrospective consecutive case series of consecutive patients with CSC who were referred for spectral domain optical coherence tomography (SD-OCT) between January 2010 and December 2011. Medical records were reviewed and clinical features including presence of FCE in SD-OCT, fluorescence angiography (FA), and indocyanine green angiography (ICGA) were studied.Among the 116 CSC patients assessed, FCE was found in 11 eyes of 7 (6.0%) patients. FCE was associated with subretinal fluid in six eyes of six patients and serous pigment epithelial detachment in three eyes of two patients. The mean central subfield retinal thickness of CSC eyes with FCE was 283.7 μm, compared with 377.5 μm for CSC eyes without FCE (Mann-Whitney U-test, P=0.020). Five FCE eyes of five patients had focal leakage on FA. Choroidal hyperpermeability on ICGA was found in seven CSC eyes with FCE, with four eyes showing hypofluorescent spot corresponding to the FCE. After a mean follow-up of 16 months, visual acuity of all 11 eyes with FCE remained stable or improved at the last follow-up.FCE is not an uncommon feature in patients with CSC and might be associated with choroidal hemodynamic disturbances.
| S-EPMC4816359 | biostudies-other
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