PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study.

Numerous studies have tried to evaluate the potential role of thrombophilia-related genes in retinal vein occlusion (RVO); however, there is limited research on genes related to different pathophysiological mechanisms involved in RVO. In view of the strong contribution of oxidative stress and inflammation to the pathogenesis of RVO, the purpose of the present study was to investigate the association of inflammation- and oxidative-stress-related polymorphisms from three different genes [apolipoprotein E (APOE), paraoxonase 1 (PON1) and stromal cell-derived factor 1 (SDF-1)] and the risk of RVO in a Greek population. Participants in this case-control study were 50 RVO patients (RVO group) and 50 healthy volunteers (control group). Blood samples were collected on EDTA tubes and genomic DNA was extracted. Genotyping of rs854560 (L55M) and rs662 (Q192R) for the PON1 gene, rs429358 and rs7412 for the APOE gene and rs1801157 [SDF1-3'G(801)A] for SDF-1 gene was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Multiple genetic models (codominant, dominant, recessive, overdominant and log-additive) and haplotype analyses were performed using the SNPStats web tool to assess the correlation between the genetic polymorphisms and the risk of RVO. Binary logistic regression analysis was used for the association analysis between APOE gene variants and RVO. Given the multifactorial nature of the disease, our statistical analysis was adjusted for the most important systemic risk factors (age, hypertension and diabetes mellitus). The dominant genetic model for the PON1 Q192R single nucleotide polymorphism (SNP) of the association analysis revealed that there was a statistically significant difference between the RVO group and the control group. Specifically, after adjusting for age and hypertension, the PON1 192 R allele (QR + RR) was found to be associated with a statistically significantly higher risk of RVO compared to the QQ genotype (OR = 2.51; 95% CI = 1.02-6.14, p = 0.04). The statistically significant results were maintained after including diabetes in the multivariate model in addition to age and hypertension (OR = 2.83; 95% CI = 1.01-7.97, p = 0.042). No statistically significant association was revealed between the other studied polymorphisms and the risk of RVO. Haplotype analysis for PON1 SNPs, L55M and Q192R, revealed no statistically significant correlation. In conclusion, PON1 192 R allele carriers (QR + RR) were associated with a statistically significantly increased risk of RVO compared to the QQ homozygotes. These findings suggest that the R allele of the PON1 Q192R is likely to play a role as a risk factor for retinal vein occlusion.

Subfoveal choroidal thickness changes in patients with pseudoexfoliation syndrome (PEX) compared to healthy controls: A systematic review and meta-analysis.

PURPOSE: To investigate changes in choroidal thickness in patients diagnosed with pseudoexfoliation syndrome (PEX) compared to healthy controls, using optical coherence tomography (OCT). METHODS: PubMed and Scopus databases were systematically searched for published articles comparing choroidal thickness between patients with PEX and healthy controls. Standardized Mean Difference (SMD) with 95 % confidence interval (CI) was computed to compare continuous variables. Revman 5.4 was used for the analysis. Subgroup analyses were performed according to OCT devices used. RESULTS: 12 studies were included in our analysis. Subfoveal choroidal thickness was decreased in patients with PEX compared to healthy controls. Subgroup analysis confirmed this finding in studies that used Heidelberg or Optovue OCT Devices. CONCLUSION: Our meta-analysis showed that choroidal thickness was decreased in patients with PEX compared to controls. Increased heterogeneity and small case-control studies are the main limitations of the meta-analysis. Further studies are needed to evaluate the clinical significance of reduced subfoveal choroidal thickness in PEX.

Retinal Nerve Fiber Layer Changes in Patients With Chronic Obstructive Pulmonary Disease Compared to Healthy Controls: A Meta-analysis.

BACKGROUND AND OBJECTIVE: This study investigated changes in retinal nerve fiber layers (RNFL) in patients diagnosed with chronic obstructive pulmonary disease (COPD) compared to healthy control patients, using optical coherence tomography. METHODS: PubMed, Cochrane Library, and Google Scholar databases were systematically searched for published articles comparing RNFL between patients with COPD and healthy controls. Standardized mean difference (SMD) with 95% confidence interval (CI) was computed to compare continuous variables. RESULTS: Average RNFL thickness was significantly reduced in COPD patients compared to healthy controls (SMD = -0.31, 95% CI = -0.48 to -0.14, P = 0.0004, I2 = 0%). Average RNFL thickness did not differ significantly between patients with mild/moderate COPD and healthy controls (SMD = -0.17, 95% CI = -0.39 to 0.04, P = 0.12, I2 = 2%), while a statistically significant reduction in average RNFL thickness was noticed in patients with severe COPD compared to healthy controls (SMD = -0.72, 95% CI = -1.23 to -0.21, P = 0.006, I2 = 83%). Average RNFL thickness was significantly higher in patients with mild/moderate COPD compared to patients with severe COPD (SMD = 0.69, 95% CI = 0.29 to 1.09, P = 0.0008, I2 = 66%). CONCLUSIONS: This meta-analysis showed that RNFL thickness was decreased in patients with COPD compared to healthy controls. Patients diagnosed with severe COPD seem to be more affected and have thinner RNFL. [Ophthalmic Surg Lasers Imaging Retina 2024;55:334-342.].

Optical Coherence Tomography Angiography Changes in Macular Area in Patients with Proliferative Diabetic Retinopathy Treated with Panretinal Photocoagulation.

BACKGROUND: The purpose of this study was to investigate the changes in macular microvasculature using optical coherence tomography angiography (OCTA) in association with functional changes in patients with proliferative diabetic retinopathy (PDR) treated with panretinal photocoagulation (PRP) with a follow up of 12 months. METHODS: The participants in this study were 28 patients with PDR and no macular oedema, who were eligible for PRP. All participants underwent best-corrected visual acuity (BCVA) measurement, optical coherence tomography (OCT), and OCT angiography (OCTA) at baseline (before treatment) and at months 1, 6, and 12 after the completion of PRP treatment. The comparison of OCTA parameters and BCVA between baseline and months 1, 6, and 12 after PRP was performed. RESULTS: There was a statistically significant decrease in foveal avascular zone (FAZ) area at months 6 and 12 of the follow-up period compared to baseline (p = 0.014 and p = 0.011 for month 6 and 12, respectively). Of note is that FAZ became significantly more circular 6 months after PRP (p = 0.009), and remained so at month 12 (p = 0.015). There was a significant increase in the mean foveal and parafoveal vessel density (VD) at all quadrants at the superficial capillary plexus (SCP) at month 6 and month 12 after PRP compared to baseline. No difference was noticed in VD at the deep capillary plexus (DCP) at any time-point of the follow up. BCVA remained the same throughout the follow-up period. CONCLUSIONS: At months 6 and 12 after PRP, foveal and parafoveal VD at SCP significantly increased compared to baseline, while the FAZ area significantly decreased and FAZ became more circular.