“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”

ABSTRACT

Background: Primary open-angle glaucoma (POAG) is a multifactorial disease that affects 65.5 million people worldwide. In addition to the genetic variants already established as indicators of greater risk for POAG, the apolipoprotein (APOE) gene has been studied in some populations, with controversial results. The aim of this study is to investigate the frequency of the genetic variants of APOE in the Brazilian population, and to evaluate the association between these polymorphisms and the risk of POAG.

Methods: APOE variants (rs429358; rs7412) were genotyped in 402 POAG patients and 401 controls. We evaluated the association between APOE genetic variants and the risk for POAG, as well as the correlation between the requirement of glaucoma surgery and the APOE polymorphisms.

Results: Among the three APOE gene isoforms, we found a low frequency of APOE alleles ε2 (7.34%) and ε4 (11.76%), but a high frequency of ε3 (80.88%) in our population. When compared to ε3ε3 reference genotype, ε2 allele-carriers (OR = 1.516; p-value = 0.04) and ε2ε3 genotype (OR = 1.655; p-value = 0.02) were associated with a greater risk for POAG. An additive genetic model confirmed the influence of the ε2 allele in the risk of POAG in this sample of the Brazilian population (OR = 1.502; p-value = 0.04). There was no significant association between the analyzed genotypes and the requirement or number of glaucoma surgeries (p > .05).

Conclusion: Brazilian individuals carrying the APOEε2 allele may be at an increased risk for the development of POAG.     

Lack of association between lysyl oxidase-like 1 polymorphisms and primary open angle glaucoma:a meta-analysis

AIM: To study the associations between lysyl oxidase-like 1 (LOXL1) polymorphisms and primary open angle glaucoma (POAG) remain inconsistent. In this study, we have performed a meta-analysis to investigate the association of LOXL1 polymorphisms with POAG risk.METHODS: Published literature from PubMed and other databases were retrieved. All studies evaluating the association between LOXL1 polymorphisms (rs2165241, rs1048661, rs3825942) and POAG risk were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model.RESULTS: Twelve studies were identified as eligible articles, with thirteen (2098 cases and 16 473 controls), thirteen (1795 cases and 2916 controls) and sixteen population cohorts (2456 cases and 2846 controls) for the association of rs2165241, rs1048661 and rs3825942 with POAG risk respectively. Overall analyses showed no association between each LOXL1 polymorphism and POAG risk, and the negative associations were remained when the subjects were stratified as Caucasian and Asian. The heterozygote of rs2165241 was associated with reduced POAG risk in hospital-based populations (TC vs CC:OR, 0.79, 95%CI:0.63-0.99), and rs1048661 was associated with increased POAG risk in hospital-based populations in a dominant model (TT vs CC+CT:OR, 1.23, 95%CI:1.01-1.50); however, these associations were not found in population-based subjects.CONCLUSION: This meta-analysis suggests that LOXL1 polymorphisms are not associated with POAG risk. Given the limited sample size, the associations of LOXL1 polymorphisms with POAG risk in hospital-based populations await further investigation.     

The relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with progression of primary open-angle glaucoma

Background: Primary open-angle glaucoma (POAG) belongs to neurodegenerative diseases. Its etiology is not fully understood. However, a lot of reports have indicated that many biochemical molecules are involved in the retinal ganglion cell damage. Therefore, the purpose of this study was to evaluate a relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with the occurrence risk of POAG and its progression.

Materials and methods: The study included 34 glaucoma patients and 32 subjects without glaucoma symptoms. RNA was isolated from peripheral blood lymphocytes. Level of mRNA expression was determined by real-time PCR method.

Results: Our results have shown significant association of the HDAC6 and SIRT1 expression levels with progression of POAG according to rim area (RA) value, p = 0.041; p = 0.012. Moreover, the analysis of the CXCR3 expression level showed a correlation with progression of POAG based on RA and cup disc ratio (c/d) value, p = 0.006 and p = 0.012, respectively.

Conclusions: The expression level of HDAC6, CXCR3, and SIRT1 genes may be involved in the progression of POAG.     

Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population

Background: Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) and GEMIN3 (rs197388), and their association with a risk of primary open-angle glaucoma (POAG) in relation to selected clinical parameters.

Materials and methods: The study included 246 POAG patients and 188 controls. The selected gene polymorphisms were analyzed by TaqMan SNP Genotyping Assay using DNA extracted from blood samples.

Results: The obtained results indicated that the AA genotype of rs197388 as well as the A allele in the same gene may be associated with an elevated risk of POAG development (P = 0.021, P = 0.017 respectively). The correlation between the data and clinical parameters has shown that the A allele of rs197388 in relation to retinal nerve fiber layer(RNFL) could be responsible for an increased risk of glaucoma occurrence (P = 0.028), while the AT genotype could be associated with a decreased risk of POAG according to the mean deviation parameter (P = 0.023).

Conclusion: Our data has shown that GEMIN3 gene (rs197388) polymorphisms might be associated with a risk of POAG development in the Polish population. This is the first report evaluating the polymorphic variants of miRNA processing genes, RAN and GEMIN3, with a changed risk of glaucoma.     

Estrogen receptor gene polymorphisms and their influence on clinical status of Caucasian patients with primary open angle glaucoma

ABSTRACT

Purpose: The aim of this study was to evaluate the frequency of single nucleotide polymorphisms (SNP) of estrogen receptor genes (ESR1: rs12154178, rs1884054 and ESR2: rs1268656, rs7159462) and to assess their possible influence on the clinical phenotype of primary open angle glaucoma (POAG).

Methods: The study included 235 patients with POAG (143 patients with normal-tension glaucoma [NTG] and 92 patients with high-tension glaucoma [HTG]), and 165 healthy controls. DNA was isolated from peripheral blood, and SNP genotyping was performed using the Real-Time Polymerase Chain Reaction method to analyze the frequency of selected polymorphic variants of estrogen receptor genes. The clinical phenotype (best-corrected visual acuity, intraocular pressure [IOP], mean deviation [MD], cup to disc ratio, disc hemorrhages, notches, peripapillary atrophy, cold extremities) of participants were examined for association with the polymorphisms.

Results: A similar frequency of the polymorphic variants of the studied genes was observed in patients with NTG, HTG and control group. Initial intraocular pressure was the lowest in NTG patients with GG variant of rs1268656 (p = 0.044). The lowest maximal IOP in HTG patients was observed in CC variant of rs12154178 (p = 0.039). Patients with HTG and CC variant of ESR1 polymorphism rs1884054 had the best visual acuity (p = 0.009), similar tendency was also observed in the NTG group. This polymorphic variant of ESR1 gene in HTG was also related to earlier damage in visual field assessed according to MD values and higher percentage of notches. For rs12154178, homozygotic variant CC was related to earlier glaucoma damage according to MD in HTG patients (p = 0.006). For polymorphism rs12154178, disc hemorrhages were found only for those with the AC variant. Cold extremities were most frequent in NTG patients with TT variant of rs1268656 comparing to other variants (p = 0.021). Notches on optic disc were less frequent in patients with CC variant of rs12154178 of ERS-1 gene (p = 0.022).

Conclusions: The studied polymorphic variants of ESR1 and ESR2 genes may have an influence on the clinical phenotype of patients with POAG.     

Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil

Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). The purpose of this study was to investigate whether these variants contribute to the incidence of POAG in a sample of the Brazilian Southeastern population and to determine the best-fitted genetic model for these single nucleotide polymorphisms (SNPs). A case-control study with 557 individuals, 310 with POAG, and 247 controls was conducted through PCR and direct sequencing. We observed a significant effect of the heterozygous genotype (G/A) of rs2157719 that occurred more frequently in the control group (p = 0.0004; OR: 0.517, CI 95%: 0.357–0.745). Allele frequencies also differed between cases and controls (p = 0.006; OR: 0.694, CI 95%: 0.522–0.922) with the best-fitted genetic model for rs2157719 being the codominant model. No differences were observed for genotype and allele distributions in relation to rs4236601 in the CAV1/CAV2 region. The association of rs2157719 (CDKN2B-AS1) with the POAG phenotype corroborates previously published results, reinforcing the importance of this variant in POAG etiology.     

The Role of Genetic Variants (rs869109213 and rs2070744) Of the eNOS Gene and BglII in the α2 Subunit of the α2β1 Integrin Gene in Diabetic Retinopathy in a Tunisian Population

Purpose: In this study, we investigated the association of two polymorphisms (rs869109213 and rs2070744) in the eNOS gene and one polymorphism BglII in the α₂β₁ integrin gene (ITGA2) with the risk of diabetic retinopathy (DR) in a Tunisian population.

Methods: The study investigated of 110 type 2 diabetes mellitus (T2DM) and 127 DR patients. The genotypes of the eNOS 4b/4a (rs869109213) and ?786T/C (rs2070744) polymorphisms and of the BglII polymorphism of ITGA2 were studied using the PCR or PCR-RFLP method.

Results: The genotype distributions of the two polymorphisms in eNOS 4b4a and eNOS (?786T/C) were significantly different between T2DM and DR patients (p < .004 and p = .033, respectively). These polymorphisms were associated with the risk of DR (OR = 2.65, 95%CI [1.45–4.84], p = .002) for the eNOS 4b4a genotype and (OR = 2.43, 95%CI [1.06 ? 5.56], p = .036) for the CC genotype of the eNOS gene (?786T/C). Similarly, the genotype distribution of the BglII polymorphism was significantly different between the two groups studied (p = .037). This polymorphism was associated with an increased risk of DR (OR = 4.03, 95% CI [1.17 ? 7.85], p = .022) for BglII(+/+).

Conclusion: The present study suggests that the polymorphisms 4b4a and ?786T/C in the eNOS gene might be associated with DR. In addition, the BglII polymorphism in the ITGA2 gene was a risk factor for DR.     

Gene polymorphisms of the MMP1, MMP9, MMP12, IL‐1β and TIMP1 and the risk of primary open‐angle glaucoma

Background: Primary open‐angle glaucoma (POAG) is the main cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their regulators (TIMPs and ILs) have been extensively studied as POAG risk factors. Recent reports have showed several single‐nucleotide polymorphisms (SNPs) for MMPs, TIMPs and ILs encoding genes in patients with POAG. The aim of this study was to investigate association of the ‐1607 1G/2G MMP1, ‐the 1562 C/T MMP9, the ‐82 A/G MMP12, the ‐511 C/T IL‐1β and the 372 T/C TIMP1 gene polymorphisms with POAG occurrence and to investigate their impact on main clinical features. Material and methods: In the present case–control study, we examined group of 511 unrelated Caucasian subjects consist of 255 patients with POAG (mean age 70 ± 15) and 256 controls (mean age 67 ± 16). Determination of genes polymorphic variants was made using polymerase chain reaction–restriction fragment length polymorphism technique (PCR‐RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. Results: Presented study showed statistically significant increase in the POAG development risk of the ‐1607 2G/2G MMP1 genotype (OR 1.75; 95% CI, 1.11–2.75; p = 0.014) and for the ‐1607 2G MMP1 allele (OR 1.35; 95% CI, 1.05–1.73; p = 0.017), as well as for the ‐1562 C/T MMP9 genotype (OR 1.74; 95% CI, 1.17–2.59; p = 0.006) and the ‐1562 T MMP9 allele (OR 1.55; 95% CI, 1.10–2.17; p = 0.012) in patients with POAG in comparison with healthy control group. We also observed positive association of the ‐511 T/T IL‐1β genotype (OR 2.60; 95% CI, 1.41–4.80; p = 0.002) as well as the ‐511 T IL‐1β allele occurrence with an increased POAG development risk (OR 1.47; 95% CI, 1.13–1.90; p = 0.003). Furthermore, we found an association of the ‐1607 1G/2G MMP1, ‐1562 C/T MMP9 (anova , p < 0.001) and the ‐511 C/T IL‐1β gene polymorphism (anova , p < 0.05) with decreased retinal nerve fibre layer (RNFL) thickness in patients with POAG group. Results displayed also an association of the 372 T/C TIMP1 gene polymorphism with normal range RNFL (anova , p < 0.001). We observed an association of decreased RA value (rim area) with the ‐82 A/G MMP12 (anova , p < 0.001). Normal RA value was observed in patients with POAG group connected with the 372 T/C TIMP1 (anova , p < 0.05) and the ‐511 C/T IL‐1β (anova , p < 0.05) genes polymorphisms occurrence. Finally, results showed an association of the ‐1562 C/T MMP9 (anova , p < 0.001) gene polymorphism with decreased cup/disc index in patients with POAG group. Conclusion: In conclusion, we suggest that the ‐1607 1G/2G MMP1, ‐1562 C/T MMP9, ‐511 C/T IL‐1β gene polymorphisms can be considered as an important risk factors associated with POAG.     

Phacoviscocanalostomy in pseudoexfoliation glaucoma versus primary open-angle glaucoma

Objective: To compare the outcome of phacoviscocanalostomy in Pseudoexfoliation glaucoma (PEXG) versus that in primary open-angle glaucoma (POAG).Design: Prospective comparative study.Participants: Sixty eyes of 60 patients who underwent phacoviscocanalostomy for cataract and medically uncontrolled PEXG (30 eyes) or POAG (30 eyes).Methods: Success rate was based on intraocular pressure (IOP) reduction and need for antiglaucoma medication. Visual acuity (VA) and complication rates were secondary outcomes.Results: The mean follow-up was 19.7 months (range, 12–36 months). The mean IOP values in both groups were significantly less than the preoperative values at all postoperative intervals (p < 0.001). From 1 month onward, the decrease in IOP was more dramatic in PEXG eyes than in POAG eyes (p < 0.05). At last visit, the mean percentage of IOP reduction was 49.7% in the PEXG group and 30.9% in the POAG group. All study eyes required decreased antiglaucoma medications and showed improved VA postoperatively. Transient complications included Descemet's membrane microperforations, macroperforation, zonular dehiscence, and postoperative IOP spike. No eyes developed trabeculectomy-type bleb, hyphema, fibrin exudation, or bleb-related complications.Conclusions: Phacoviscocanalostomy achieved excellent IOP control and VA improvement in both PEXG and POAG groups. PEXG demonstrated greater IOP reduction and fewer postoperative medications than POAG. The complication rate was low and did not affect surgical outcome. Phacoviscocanalostomy can be an effective and safe surgical alternative to phacotrabeculectomy in both groups of patients.     

Association of ABO blood groups with glaucoma in the Pakistani population

Objective: To study the association of blood groups with different types of glaucoma including primary open-angle glaucoma (POAG), primary closed-angle glaucoma (PCAG), and pseudoexfoliative glaucoma (PEXG) in the Pakistani population.Study Design: The present study was a prospective case control study.Participants: ABO and Rh blood groups were analyzed in 2046 controls and 477 glaucoma patients (220 POAG, 146 PCAG, and 111 PEXG).Methods: Hemagglutination patterns were used to determine the prevalence of the ABO and Rh blood groups in all the subjects. Logistic regression analysis was carried out to evaluate any association of the different blood groups with glaucoma.Results: In the present study, the percentage of blood groups A, B, AB, and O in patients was found to be 19%, 41%, 10%, and 30%, and in the control group, the values were 26%, 31%, 12%, and 31%, respectively. A significant positive association was found between the B blood group and glaucoma (p value < 0.05, odds ratio [OR] 1.5, and χ² 15.8). Logistic regression analysis revealed that the blood group B was associated with all types of glaucoma with OR of 1.35 (95% CI 1.01-1.80; p = 0.04) for POAG, 1.71 (95% CI 1.21-2.40; p = 0.002) for PCAG, and 1.61 (95% CI 1.09-2.36; p = 0.016) for PEXG. POAG was also found to be associated with the Rh- allele (p < 0.05) with an OR of 4.05 (95% CI 2.98-5.51), as compared with controls.Conclusions: In the Pakistani patient cohort, blood group B is associated with all types of glaucoma and the Rh-allele is associated only with POAG.     

Association of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population

Background: Toll-like receptor 4 (TLR4) non-coding polymorphisms are associated to primary open angle glaucoma (POAG), normal tension glaucoma, and pseudoexfoliation glaucoma. This study was performed to determine whether non-coding single nucleotide polymorphisms (SNPs) in the TLR4 gene contribute to POAG in a Mexican population.

Material and methods: A total of 187 unrelated Mexican patients with POAG and 109 control subjects were included. Allelic, genotypic, and haplotypic diversity was assessed for the non-coding polymorphisms rs11536889, rs1927911, rs12377632, and rs2149356 of the TLR4 gene. Genotyping of target SNPs was performed by 5′ exonuclease allelic discrimination assays.

Results: Strong linkage disequilibrium was observed among the SNPs (D’ > 0.818), which were located in one haplotype block. The rs11536889 polymorphism was not associated to POAG in any case. The frequency of the minor allele of rs2149356 was significantly higher in the glaucoma group, conferring an increased risk of POAG (p = 0.0018, OR = 1.803, 95% CI 1.2556–2.5890) whereas minor allele of rs12377632 was significantly lower, attributing a protective effect (p = 0.0001, OR = 0.6662, 95% CI 0.4753–0.9339). Subjects with genotypes carrying the minor allele of rs1927911 and rs2149356 shown an increased risk for POAG (p = 0.03, OR = 1.78, 95% CI 1.10–2.87, and p < 0.0004, OR =2.62, 95%CI 1.61–4.27 respectively). Finally, we found significant risk haplotypes. The GTT haplotype (constituted by rs1927911, rs12377632, and rs2149356) reached the higher OR (p = 0.0026, OR = 4.70, 95% CI 1.73–12.77).

Conclusions: We have identified intronic TLR4 SNPs as genetic susceptibility alleles for POAG in a Mexican population. Our findings support the association of the TLR4 gene with POAG.     

剥脱性青光眼患者视网膜神经纤维层厚度变化分析

目的：比较维吾尔族假性剥脱综合征(PEX)患者、剥脱性青光眼(PEXG)患者视网膜神经纤维层(RNFL)厚度,为早期诊断剥脱性青光眼提供理论依据。

方法：回顾性病例对照研究。选取2018-04/ 2020-06在我院就诊治疗的维吾尔族假性剥脱综合征患者70例70 眼,剥脱性青光眼患者 80例80 眼,按照视野缺损分期分为早中期剥脱性青光眼患者56眼、晚期剥脱性青光眼患者24眼,选取同期本院收治的维吾尔族年龄相关性白内障病例60例60 眼作为对照组。比较四组患者视盘不同位置RNFL厚度。

结果：对照组、假性剥脱综合征组及剥脱性青光眼组患者视野缺损(MD)逐渐加重且剥脱性青光眼组患者MD显著高于假性剥脱综合征组(P<0.01); 假性剥脱综合征组、早中期剥脱性青光眼组及晚期剥脱性青光眼组视盘不同位置RNFL厚度较对照组均变薄(均P<0.01); 假性剥脱综合征组患者视盘平均RNFL、下方、上方RNFL厚度均低于对照组(均P<0.01)); 晚期剥脱性青光眼组患者视盘各个位置RNFL厚度明显低于早中期剥脱性青光眼患者(均P<0.01)。

结论：维吾尔族假性剥脱综合征患者早期RNFL厚度较未患有剥脱综合征人群开始变薄,早期对于假性剥脱综合征患者RNFL进行检测有助于剥脱性青光眼疾病诊断并进行治疗。     

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

Purpose: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which this locus causes disease remains to be elucidated. We investigated the association of DNA methylation of CpG islands at this locus with NTG.

Methods: We conducted a retrospective case–control study of 178 NTG cases and 202 unaffected controls from Australia. CDKN2B and CDKN2B-AS1 promoter methylation was measured quantitatively using the MassCleave assay, and assessed for association with the disease, and the genotype of the associated risk variants using IBM SPSS statistics 22.0 CpG sites at which methylation status was associated with NTG were validated using pyrosequencing.

Results: We identified one CpG site (F1:13–14) in the CDKN2B promoter which showed significant association with NTG (p = 0.001). The association was highly significant in female cases (p = 0.006) but not in male cases (p = 0.054). The association was validated using an independent method confirming the likely association of DNA methylation with NTG in females (p = 0.015), but not in males (p = 0.497). In addition, methylation at CpG sites in CDKN2B was also associated with genotype at rs1063192, which is known to confer risk for NTG.

Conclusion: This study reveals an association of methylation status in the CDKN2B promoter with NTG, particularly in females. This suggests that the observed genetic association with the disease at this locus could be in part due to epigenetic mechanisms, and is likely to be independent of the association of nonsynonymous coding variation within the gene.     

Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients

Aim: To evaluate phenotypic differences among familial and non-familial JOAG patients.

Methods: First degree relatives of unrelated JOAG patients were screened for glaucoma and ocular hypertension. JOAG probands were grouped as familial or non-familial and phenotypic differences in terms of age of onset, gender, baseline untreated IOP, presence angle dysgenesis, and refractive error was compared between the two groups.

Results: Out of 368 unrelated JOAG patients, 134 in whom all first degree relatives had been examined were included in the study. The non-familial JOAG (n = 96) had similar age of onset as familial JOAG (n = 38); (p = 0.076) but had greater male preponderance (p = 0.046), and had the higher baseline IOP (p = 0.044) compared to familial JOAG. However, on adjustment using the Bonferroni correction, the observed differences were not found to be significant. Both groups had similar proportion of patients with angle dysgenesis (p = 0.46) and high myopia (p = 0.72).

Conclusions: Non-familial JOAG were not found to be phenotypically different from the familial JOAG patients in this cohort.     

Association of catalase polymorphisms with primary open-angle glaucoma in a Chinese population

Purpose: Many genes have been associated with primary open-angle glaucoma (POAG). This study was conducted to investigate whether catalase (CAT) polymorphisms play a significant role in POAG in a Chinese population.

Methods: A cohort of 416 unrelated POAG patients and 997 unrelated control subjects was included in this case–control association study. CAT functional single-nucleotide polymorphisms (SNPs), including rs1001179, rs7943316, and rs769217, were genotyped by SNaPshot method. The genotype and allele frequencies were evaluated using the χ² tests. The linkage disequilibrium (LD) and haplotype block structure association were examined using the program Haploview (Broad Institute, Cambridge, MA).

Results: There was a statistically significant difference for CAT functional SNP rs769217 between POAG cases and controls in the allelic model (p = 0.004, OR = 1.27, 95% CI 1.08–1.49). At this SNP, the allele frequency of the C allele in POAG cases was 0.587, which was higher than that in controls (0.528). However, no association was found for rs1001179 and rs7943316 with POAG. Pairwise LD analysis showed high LD between rs769217 and rs7943316 (D’ = 0.857, r² = 0.252, confidence bounds 0.71–0.93). After the association analysis for haplotype block structure generated from rs769217 with rs7943316, the data showed no significant association between the cases and controls.

Conclusions: This study showed that CAT functional SNP rs769217 was significantly associated with POAG, implying that the CAT gene variants may play a role in the pathogenesis of POAG in the Chinese population.     

Selective laser trabeculoplasty in steroid-induced and uveitic glaucoma

ObjectiveTo compare primary selective laser trabeculoplasty (SLT) response in uveitic, steroid-induced, primary open-angle glaucoma (POAG) and pseudoexfoliative glaucoma (PEX).DesignSingle-centre retrospective case–control study.ParticipantsPatients with uveitic glaucoma, steroid-induced glaucoma, POAG, or PEX who had their first SLT.MethodsEyes with POAG or PEX were in control groups. Eyes with steroid-induced or uveitic glaucoma were in experimental groups. Change in intraocular pressure from baseline, treatment failure, complication rates, and medication use were compared using rank-sum and log-rank tests.ResultsSix-hundred and eight eyes of 433 patients were enrolled. Steroid-induced glaucoma eyes had higher mean baseline pressure and a decrease in pressure at 3–8 weeks (27.6–17.4 mm Hg) than those with PEX (21.7–16.5 mm Hg; p < 0.001) or POAG (18.6–14.9 mm Hg; p ≤ 0.025). Failure rates after 2 years were lower in steroid-induced glaucoma (54%) than in PEX (84%; p = 0.01) or POAG (84%; p = 0.005). This survival benefit persisted when excluding patients with changes to their steroid dosing (p ≤ 0.03) but showed mixed results when compared with patients with a baseline pressure of 25mm Hg or greater (p = 0.020 vs PEX; p = 0.67 vs POAG). At 18 months, the steroid-induced group decreased ocular hypotensive medication use (3.5–1.9; p = 0.005); the uveitic group increased medication use (2.7–3.5; p = 0.02).ConclusionsSLT is an effective treatment for steroid-induced glaucoma, with greater response and a lower failure rate than in PEX and primary POAG, although high baseline intraocular pressure may be a confounder. Judicious use of SLT can be considered in uveitic glaucoma.     

Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population

Purpose: Genetic factors have been shown to play a remarkable role in the pathophysiology of glaucoma. Recently, two polymorphisms (rs1533428 and rs12994401) on chromosome 2p were found to be strongly associated with POAG in an Afro-Caribbean population in Barbados, West Indies. As data with regard to the role of these polymorphisms in a Caucasian population are lacking, the present study was set to investigate a hypothetical association between these polymorphisms and POAG in a Caucasian population.

Methods: In total 723 participants were included in this study comprising 366 patients with POAG and 357 control subjects from the southern part of Austria. Genotyping of rs1533428 and rs12994401 was performed using polymerase chain reaction.

Results: Allelic frequencies and genotype distributions of rs1533428 and rs12994401 did not show statistical significance between patients with POAG and control subjects (p < 0.05). Presence of the rs1533428 T-allele was associated with an odds ratio of 0.95 (95% CI: 0.76–1.19; p = 0.69) for POAG, while the rs12994401 T-allele was associated with an odds ratio of 0.94 (95% CI: 0.73–1.21; p = 0.65) for POAG.

Conclusion: Our data suggest that rs1533428 and rs12994401 themselves are unlikely major risk factors for POAG in a Central European population.     

维吾尔族假性剥脱综合征患者角膜内皮形态学分析

目的：:对比分析维吾尔族假性剥脱综合征（PEX）、剥脱综合征性青光眼（PEXG）、原发性开角型青光眼（POAG）及年龄相关性白内障（ARC）角膜内皮形态学差异。方法：:回顾性病例对照研究。选取2019年7月至2020年8月在中国人民解放军新疆军区总医院全军眼科中心就诊治疗的维吾尔族PEX患者76例（76眼）,PEXG患...     

Epidemiology of Hyphema-Related Emergency Department Visits in The United States Between 2006 and 2015

Purpose: To describe epidemiological trends, risk factors, and hospital-associated charges for patients presenting with hyphema to emergency departments (EDs) throughout the United States (U.S.).

Methods: Cross-sectional analysis of all hyphema-related ED cases in the U.S. Nationwide Emergency Department Sample (NEDS) between 2006 and 2015 to determine population-based incidence rates, patient demographics, visit characteristics and associated charges.

Results: Between 2006 and 2015, there were a total of 16,222 cases with hyphema as primary visit diagnosis (0.52 ED visits per 100,000 population). The mean (SD) age at presentation was 37.4 (24.8) years, and males accounted for 66.2% of these cases. Trauma (n = 4,994, 30.8%) was the most frequently identified etiology, with sports-related injuries as important contributor. On multivariate analysis, traumatic hyphema was more likely for patients aged 5–14 years (Odds ratio [OR] = 1.88 [95% Confidence interval [CI]: 1.04–3.40, p = 0.04]) than 0–4 years, males (OR = 1.33 [95% CI: 1.09–1.62, p = 0.01]), in May through September (OR = 1.66–1.93 [95% CI: 1.08–3.05, p = 0.005–0.03]),and for those in the highest income quartile (OR = 1.42 [95% CI: 1.10–1.83, p = 0.01]). Visits were less likely for patients aged ≥55 years (OR = 0.49 [95% CI: 0.25–0.994, p = 0.03]) than 0–4 years. During the study period, hyphema accounted for $21 million in ED associated and $9 million in inpatient charges.

Conclusion: ED visits with hyphema as primary diagnosis occur at an annual rate of 0.52 per 100,000 population. Young males are particularly at risk and there has been an increase in the number of sports-related injuries which may represent a modifiable cause. Hyphema management costs $3 million in hospital-related charges annually.