原发性开角型青光眼的代谢综合征相关基因单核苷酸多态性

目的:检测原发性开角型青光眼(POAG)和代谢综合征相关基因的单核苷酸多态性(SNP),分析代谢综合征作为危险因素在POAG发生发展中所起的可能作用。方法:应用ABI Prism 7500HT型荧光定量PCR仪结合TaqMan SNP Genotyping试剂盒荧光探针技术检测POAG37和正常对照100例白介素6(IL-6)、白介素6受体(IL-6R)、多巴胺受体-D2(DRD2)、β-纤维蛋白原(FGB)、过氧化物酶体增殖物激活受体-γ2(PPARG)、转化生长因子-β1(TGF-β1)、E-选择素(E-Sel)、脂蛋白A-5(APOA5)、C反应蛋白(CRP)、外核苷酸焦磷酸酶/磷酸二酯酶1(ENPP1)、肝脂肪酶(LIPC)、脂联素(ADIPOQ)、对氧磷酯酶-1(PON1)和丝氨酸蛋白酶抑制剂E(SERPINE1)基因的基因型,计算并比较其等位基因频率。结果:POAG组IL-6R,IL-6,FGB,CRP,ENPP1,LIPC,ADIPOQ,PON1和SERPINE1的基因型和等位基因频率与正常对照组差异有显著性统计学意义。其中OR值>2.5的有IL-6,FGB,CRP,ENPP1,LIPC和ADIPOQ。结论:代谢综合征作为POAG的危险因素,可能与其相关基因的基因型和等位基因频率有关。其相应的基因表达及其功能可影响POAG的发生和发展,包括SERPINE1作用于小梁网细胞外基质;ENPP1抑制胰岛素样因子活性,影响小梁网细胞生长;IL-6的内源性视神经保护作用;IL-6,IL-6R,E-Sel参与的自身免疫反应;FGB和LIPC在高粘滞血症中作用;ADIPOQ促进NOS/NO生成;PON1的血管内皮保护作用。     

原发性开角型青光眼的代谢综合征相关基因单核苷酸多态性

目的：检测原发性开角型青光眼（POAG）和代谢综合征相关基因的单核苷酸多态性（SNP）,分析代谢综合征作为危险因素在POAG发生发展中所起的可能作用。方法：应用ABI Prism 7500HT型荧光定量PCR仪结合TaqMan SNP Genotyping试剂盒荧光探针技术检测POAG37和正常对照100例白介素6（IL-6）、白介素6受体（IL-6R）、多巴胺受体-D2（DRD2）、β-纤维蛋白原（FGB）、过氧化物酶体增殖物激活受体-γ2（PPARG）、转化生长因子-β1（TGF—β1）、E-选择素（E—Sel）、脂蛋白A-5（APOA5）、C反应蛋白（CRP）、外核苷酸焦磷酸酶／磷酸二酯酶1（ENPP1）、肝脂肪酶（LIPC）、脂联素（ADIPOQ）、对氧磷酯酶-1（PON1）和丝氨酸蛋白酶抑制剂E（SERPINE1）基因的基因型,计算并比较其等位基因频率。结果：POAG组IL-6R,IL-6,FGB,CRP,ENPP1,LIPC,ADIPOQ,PON1和SERPINE1的基因型和等位基因频率与正常对照组差异有显著性统计学意义。其中OR值〉2．5的有IL-6,FGB,CRP,ENPP1,LIPC和ADIPOQ。结论：代谢综合征作为POAG的危险因素,可能与其相关基因的基因型和等位基因频率有关。其相应的基因表达及其功能可影响POAG的发生和发展,包括SERPINE1作用于小梁网细胞外基质;ENPP1抑制胰岛素样因子活性,影响小梁网细胞生长;IL-6的内源性视神经保护作用;IL-6,IL-6R,E—Sel参与的自身免疫反应;FGB和LIPC在高粘滞血症中作用;ADIPOQ促进NOS／NO生成;PON1的血管内皮保护作用。     

青睫综合征与原发性开角型青光眼

报告２９例青睫综合征患者，全部作角膜内皮、前房角、视野、杯盘比、视网膜神经纤维层检查，其中２５例亦作ＶＥＰ检查。结果表明：青睫综合征并不是一种预后良好的自愈性疾病，而是一种可造成青光眼性视功能损害的疾病。它是否与原发性开角型青光眼有联系有待研究。     

原发性开角型青光眼

原发性开角型青光眼李美玉青光眼是由于眼压升高引起的视乳头损害和视野缺损的一种眼病。个体眼球对眼压的耐受力不同，有些眼球眼压高于２．８ｋＰａ（１ｋＰａ＝７．５ｍｍＨｇ）可产生视乳头和视野损害，形成真正的青光眼；有些眼压虽高出正常值，却不产生视乳头和视野...     

原发性开角型青光眼伴高度近视的代谢综合征相关基因单核苷酸多态性分析

目的检测原发性开角型青光眼（POAG）伴高度近视患者中和代谢综合征相关基因的单核苷酸多态性（SNP）,分析代谢综合征和高度近视作为危险因素在POAG发生发展中所起的作用。方法应用ABI Prism7500HT型荧光定量PCR仪结合TaqMan SNP Genotyping试剂盒荧光探针技术检测单纯POAG组24例、POAG伴高度近视组13例、正常对照组100例白细胞介素-6（IL-6）、IL-6受体（IL-6R）、多巴胺受体-D2（DR-D2）、β-纤维蛋白原（β-FGB）、过氧化物酶体增生物激活受体-γ2（PPARG-γ2）、转化生长因子-β1（TGF-β1）、E-选择素（E-Sel）、脂蛋白A-5（APOA-5）、C反应蛋白（CRP）、外核苷酸焦磷酸酶/磷酸二酯酶-1（ENPP-1）、肝脂肪酶（LIPC）、脂联素（ADIPOQ）、对氧磷酯酶-1（PON-1）和丝氨酸蛋白酶抑制剂E-1（SERPINE-1）基因的基因型和等位基因频率。结果研究纳入的POAG患者的E-Sel、APOA-5、LIPC、ADIPOQ、PON-1、SERPINE-1等位基因频率与亚洲人资料相似。总POAG组IL-6R、IL-6、β-FGB、CRP、ENPP-1、LIPC、ADIPOQ、PON-1和SERPINE-1的基因型和等位基因频率与正常对照组比较,差异均有统计学意义（P〈0.05）。其中,IL-6、β-FGB、CRP、ENPP-1、LIPC和ADIPOQ的OR值〉2.5。单纯POAG患者与POAG伴高度近视患者之间IL-6R、IL-6的基因表型和等位基因频率差异有统计学意义（χ^2=5.48,P〈0.05）;POAG患者与正常对照者相比,IL-6、CRP的基因型和等位基因频率、β-FGB基因频率及ADIPOQ基因型均不相同（χ^2=3.79,P=0.04）。结论代谢综合征和高度近视作为POAG的危险因素与其相关基因的基因型和等位基因频率有关,其影响包括E-Sel和SERPINE-1可作用于小梁网的细胞外基质;ENPP-1抑制胰岛素样因子活性而影响小梁网细胞生长;IL-6的内源性视神经保护作用;IL-6、IL-6R、E-Sel参与的自身免疫反应;β-FGB和LIPC在高黏滞血症中的作用;ADIPOQ促进NOS/NO生成;PON1的血管内皮保护作用。     

原发性开角型青光眼与阿尔茨海默病相关性研究

原发性开角型青光眼(primary open-angle glaucoma,POAG)是一种严重影响视功能的不可逆的致盲眼病,其主要病变是视网膜神经节细胞的凋亡和视神经的损伤.阿尔茨海默病(alzheimer's disease,AD)是以进行性认知功能障碍和行为损害为特征的中枢神经系统退行性病变.目前对POAG与AD之间相关性的研究成为本领域热点.本文从流行病学、病因学、基因学、临床表现、治疗学等方面阐述POAG与AD的关系.     

剥脱性开角型青光眼与原发性开角型青光眼眼前节结构参数的比较

目的：比较剥脱性开角型青光眼（PXOAG）与原发性开角型青光眼（POAG）眼前节结构参数的差异。方法：病例对照研究。选取2012 年12 月至2016 年12 月住院治疗的连续PXOAG病例54 例（54 眼）作为PXOAG组,平均眼压为（28.8±7.9）mmHg（1 mmHg=0.133 kPa）。选取性别、年龄及眼压相匹配的POAG病例53 例（53 眼）作为POAG组,平均眼压为（26.3±7.4）mmHg。测定2 组患者角膜厚度、角膜内皮细胞密度、六角型细胞比例、前房深度及晶状体厚度等眼前节参数,并采用独立样本t 检验进行数据分析。结果：POAG组角膜厚度、角膜内皮细胞密度、六角型细胞比例、前房深度及晶状体厚度分别为（535±36）μm、 （2 538±356）/mm2、 （52±12）%、 （2.89±0.36）mm和（4.96±0.41）mm;PXOAG组相应参数分别为（523±41）μm、 （2 323±451）/mm2、 （52±14）%、 （2.79±0.60）mm和（4.98±0.42）mm。2 组患者角膜厚度、六角型细胞比例、前房深度及晶状体厚度比较差异无统计学意义（t =1.57、0.18、1.11、0.26,P ＞0.05）,而角膜内皮细胞密度比较差异有统计学意义（t =2.78,P =0.01）。结论：PXOAG与POAG相比,角膜内皮细胞密度较低,提示在临床治疗过程中应更加注意对角膜内皮的保护。     

透明质酸与原发性开角型青光眼

随着对原发性开角型青光眼研究的深入和进展,许多研究结果表明人眼中透明质酸的含量失衡,可使房水滤过阻力增加,眼压升高;CD44分子与透明质酸之间相互作用的失调,可引起小梁网细胞丢失、死亡,影响小梁网细胞内环境的稳定,并且与视网膜神经节细胞的数量减少、活性下降以及视野缺损存在一定关联.透明质酸还可能通过影响基质金属蛋白酶的分泌,参与原发性开角型青光眼的发病.     

开角型青光眼有Rieger综合征患者中RIEG基因突变筛查

目的 分析国人开角型青光眼及Ｒｉｅｇｅｒ综合征中ＲＩＥＧ基因突变情况。方法 收集无血源关系的原发性开角型青光眼１５例、先天性青光眼８例、Ｒｉｅｇｅｒ综合征４例。制备全体患者的血白细胞基因组ＤＮＡ。应用ＰＣＲ法扩增所有样品中ＲＩＥＧ基因全部编码区（共６例引物）,然后分别用异源双链－ＳＳＣＰ法筛查基因突变。结果 所分析的２７例患者基因组ＤＮＡ中均未检测到ＲＩＥＧ突变。结论 ＲＩＥＧ基因变异可能不是本组     

Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma

AIM: To analyze single nucleotide polymorphisms (SNP) of primary open angle glaucoma- and metabolic syndrome-related genes in primary open angle glaucoma (POAG), in order to elucidate the roles of metabolic syndrome as a risk factor in POAG progress. · METHODS: SNP genotypes and alleles of interleukin-6 (IL-6), IL-6 receptor (IL-6R), dopamine D2 receptor (DRD2), beta-fibrinogen (FGB), peroxisome proliferator-activated receptor-γ2 (PPARG), transforming growth factor-β1 (TGF-β1), E-selectin (E-Sel), apolipoprotein A-5 (APOA5), C-reactive protein (CRP), ectonueleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), hepatic lipase (LIPC), adiponectin (ADIPOQ), paraoxonase 1 (PON1) and serine protease inhibitor E (SERPINE1) genes in POAG (n =37) and normal control (n =100) groups were measured with ABI Prism 7900HT Fluorescence Quantitative PCR and TaqMan SNP Genotyping fluorescence probe kit. · RESULTS: Genotypes and allele frequencies of IL-6R, IL-6, FGB, CRP, ENPP1, LIPC, ADIPOQ, PON1, and SERPINE1 in total POAG group were significantly different compared to the control group. · CONCLUSION: Metabolic syndrome as a risk factor for POAG may be associated with genotypes and allele frequencies of the related genes. The corresponding gene expression and function can affect POAG progress, including roles of SERPINE1 in extracellular matrix, ENPP1 in insulin inhibition, IL-6 in endogenous neuroprotection, IL-6, IL-6R and E-Sel in autoimmune response, LIPC and FGB in blood hyperviscosity syndrome, ADIPOQ in NOS/NO production, PON1 in vascular endothelial protection.     

正常眼压青光眼与原发性开角型青光眼的比较

正常眼压青光眼（ＮＴＧ）的发病率逐渐增加,日益受到眼科工作者的重视。ＮＴＧ发病隐蔽,早期诊断较其它青光眼显得更为困难和复杂,其发病机制、诊断标准及其与原发性开角型青光眼（ＰＯＡＧ）的异同等一系列问题仍无统一意见。就ＮＴＧ与ＰＯＡＧ的诊断标准,发病机制,临床表现,治疗原则以及相互关系等问题的研究进展等进行综述。     

Inflammatory model in patients with primary open angle glaucoma and diabetes

AIM: To assess the inflammatory cytokines expression in aqueous humor in diabetic primary open angle glaucoma (POAG) patients. METHODS: A cross-sectional study on 87 eyes, distributed as following: 26 eyes from diabetic patients, 16 eyes with POAG and 21 eyes from diabetic POAG patients; healthy controls (24 eyes) were recruited from patients undergoing conventional cataract surgery. A volume of 100 μL of aqueous humor (AH) was collected during phacoemulsification and 21 inflammatory markers were quantified using a Luminex® cytometric bead assay: IL-1Ra, IL-1α, IL-1β, IL-5, IL-6, IL-10, IL-17, GM-CSF, IFNγ, CCL2, CCL3, CCL4, CXCL5, CXCL8, bFGF, VEGF, TNFα. Main changes in cytokine profile were analyzed and compared between groups. Data on demographics, duration of glaucoma, intraocular pressure (IOP), number of anti-glaucoma substances were recorded for correlation analysis and prediction models. RESULTS: Significant differences in cytokine expression between groups were detected for CXCL5 (P<0.001), CXCL8 (P=0.004), IL-1α (P<0.001), IL-2 (P<0.001), CCL4 (P=0.003), CCL5 (P<0.001) and TNFα (P=0.05). Post-hoc analysis identified IL-2 (P=0.009) and CXCL5 (P<0.001) as “separation markers” between POAG and diabetic POAG eyes. In POAG patients, the “separation markers” could highly predict the TNFα levels F(1, 16)=14.639, P<0.001, whereas in diabetic patients F(1, 24)=4.844, P=0.006 and diabetic POAG patients F(1, 19)=2.358, P=0.05 the level of prediction was inferior. CONCLUSION: Our results reveal an inflammatory model based on increased TNFα levels in POAG eyes. Simultaneous co-stimulatory molecules and additional inflammatory pathways need to be further explored in diabetic POAG cases, since the prediction model could only partially explain the increased TNFα level in this category of patients.     

Management of ocular hypertension and primary open angle glaucoma

Background : Glaucoma and pcular hypertension are among the most common pathologies encountered in clinical practice. Within the next 20 years, patients with these two problems will increase threefold as the population ages. The growing burden of glaucoma worldwide will also become a significant public health problem. The effective management of glaucoma will require the introduction of new screening strategies and better therapeutic approaches to these disorders. Methods : Our current understanding of the epidemiology of primary open angle glaucoma and ocular hypertension is reviewed. Diagnosis and treatment strategies are discussed in the context of the current best available clinical trial and laboratory data. Results : While few patients with ocular hypertension will require therapy, it is the conventional practice to lower the intraocular pressure by at least one‐third once glaucomatous optic neuropathy is detected. Topical beta‐adrenergic antagonists have been the preferred first‐line therapy for primary open angle glaucoma for the past 20 years, but with the advent of topical prostaglandin analogues and alpha‐2 agonists, the effectiveness of medical therapy has improved significantly. The decision to perform glaucoma filtering surgery or laser trabeculoplasty must be carefully considered and based on the past response to medication, the extent and rate of progression of any visual field loss, and on the life expectancy and wishes of the patient. Conclusion : The treatment of chronic glaucoma is directed at preserving vision and interfering with the quality of life of the patient as little as possible. Many older patients who develop primary open angle glaucoma may have a limited life expectancy and do not require aggressive medical therapy or surgery. Many new medications have become available that permit less frequent dosing with fewer local and systemic side‐effects. In the near future, therapies that address the underlying molecular basis of glaucomatous optic neuropathy might become available and further reduce the risk of glaucoma blindness.     

Physical activity of patients with a primary open angle glaucoma

AIM: To assess physical activity (PA) including its intensity in primary open angle glaucoma (POAG). METHODS: PA was characterized by the use of questionnaires: Seven-Day Physical Activity Recall and Historical Leisure Activity Questionnaire. A questionnaire of 36 questions, developed by the authors, was used to assess the level of knowledge about glaucoma RESULTS: The study was conducted among 625 adults. The study group comprised 312 POAG patients aged over 40y, including 238 women (76%) and 74 men (24%). The control group consisted of 313 adults (>40 years old), including 202 (65%) women and 111 men (35%). The duration of current PA with an intensity of 4 metabolic equivalents (METs) was significantly shorter among people with POAG. PA in the past was significantly lower among people from the study group, regardless of gender. The level of glaucoma knowledge in patients with POAG was poor and significantly lower in men. CONCLUSION: Regular PA is an important and underestimated factor predisposing to the progression of POAG. There is a necessity to undertake educational and preventive actions with a view to modify the health behavior of glaucoma patients.     

拉坦前列素治疗开角型青光眼的疗效观察

目的：探讨拉坦前列素治疗开角型青光眼的疗效。

方法：选择2015-08/2017-08期间在我院就诊的开角型青光眼患者100例作为研究对象,根据治疗方法的不同分为观察组和对照组,各50眼。对照组采用噻吗洛尔滴眼液治疗,2次/d,每次1滴,连续治疗12wk; 观察组采用拉坦前列素滴眼液治疗,1次/d,每次1滴,连续治疗12wk。比较两组患者治疗前后眼压、眼部血流动力学指标、视野缺损度及不良反应发生情况。

结果：治疗前两组患者眼压水平相比,差异无统计学意义(P>0.05); 治疗4、8、12wk后观察组眼压均低于对照组,差异均有统计学意义(P<0.05)。对照组治疗前后视网膜中央动脉(CRA)、睫状后短动脉(PCA)血流动力学指标相比,差异均无统计学意义(P>0.05); 观察组CRA、PCA的舒张末期血流速度(EDV)与收缩期血流速度(PSV)均较治疗前显著升高,而血管阻力指数(RI)明显下降,差异均有统计学意义(P<0.05)。治疗前两组各方位视野缺损程度相比,差异无统计学意义(P>0.05); 治疗后两组各方位缺损范围均明显缩小,且观察组患者视野缺损程度明显小于对照组,差异均有统计学意义(P<0.05)。两组患者不良反应发生率相比,差异无统计学意义(P>0.05)。

结论：开角型青光眼采用拉坦前列素滴眼液治疗效果显著,能够明显降低眼压,改善眼部血流动力学,缩小视野受损范围,具有良好的安全性。     

肠道菌群与POAG因果关系的两样本孟德尔随机化研究

目的：利用两样本孟德尔随机化(MR)的研究方法探究肠道菌群(GM)与原发性开角型青光眼(POAG)的潜在因果关系。

方法：利用英国布里斯托尔大学的GM的全基因组关联研究数据(GWAS)作为暴露和IEU Open GWAS数据库中POAG的GWAS数据作为结局,采用逆方差加权(IVW)、MR Egger、加权中位数(WM)、Simple Mode、Weighted Mode方法分析POAG与GM之间存在的潜在关系,其中IVW为主要分析方法。敏感性分析检测该MR分析结果是否可靠。

结果：IVW分析显示,Butyrivibrio(OR=1.170,95%CI：1.057-1.295,P=0.002)、Howardella(OR=1.188,95%CI：1.043-1.355,P=0.010)、LachnospiraceaeUCG001(OR=1.229,95%CI：1.016-1.485,P=0.033)增加了POAG的发病风险; 而Candidatus Soleaferrea(OR=0.810,95%CI：0.670-0.981,P=0.031)、Ruminococcustorquesgroup(OR=0.656,95%CI：0.453-0.950,P=0.026)、Ruminococcaceae-UCG013(OR=0.770,95%CI：0.598-0.990,P=0.041)降低了POAG的发病风险。敏感性分析结果表明以上结果不存在异质性和多效性,分析结果具有可靠性。

结论：GM与POAG存在潜在的因果关系,由于POAG具有致盲性,早期诊断和早期干预POAG的相关因素对该病的临床预后具有重要意义。     

原发性开角型青光眼治疗进展

既往流行病学结果证明,除白内障以外,青光眼是世界第二大主要的致盲眼病,其中原发性开角型青光眼发病率高,发病机制复杂多样,且发展缓慢,病情隐匿,早期大多数无明显症状,大多数患者就诊时已进入中晚期,出现了不可逆的视功能损伤,对家庭、社会危害极大.因此,早发现、早治疗,防止视功能的进一步损伤是开角型青光眼防治的重中之重.近年来该病患病率在临床上所占的比例逐年上升,相应的诊断及治疗的新方法层出不穷.然而不论早期或是中晚期患者,降低眼压、将眼压控制在目标眼压范围,延缓视功能损害依旧是治疗的最终目标,本文将对近年来对原发性青光眼的诊疗现状及进展做一综述.