病理性近视相关基因定位的研究进展

病理性近视是很多国家的主要致盲性眼病之一,具有屈光度高、进行性加重、常伴有多种严重并发症等特点,部分患者也与多种眼部或全身性疾病相关联.目前普遍认为遗传因素为该病的主要致病原因,其发病机制多为单基因点突变.结合国内外研究进展,就非综合征相关的病理性近视的相关基因定位和几种病理性近视相关眼部及全身疾病基因的定位研究进展进...     

近视病因与发病机制的研究进展

近视是发病率较高的眼病,其中高度近视眼底病变是常见的致盲病因.通常认为近视的发生是环境与遗传因素共同作用的结果.而病理性近视的发生,目前认为与遗传因素高度相关,国内外对其基因定位有多种认识,但尚无定论.绝大多数近视属轴性近视,由玻璃体腔的过度延伸导致眼球前后径延长、光线经屈光介质作用后聚焦于视网膜前所致.近视的发生发展受到高位神经中枢和眼内局部两种作用机制的调控.对近视的病因从遗传和环境两方面因素进行综述,重点阐述在基因水平、细胞水平和分子水平上对近视发病机制的研究进展.     

高度近视致病基因的研究进展

高度近视是成年人致盲的重要原因之一,遗传因素在其发病中起重要作用.本文总结近年来高度近视基因定位的研究进展,就高度近视的遗传因素、遗传方式、候选基因的筛查、相关基因定位的分子遗传学研究方法和进展加以综述.尽管尚未发现明确的致病基因,目前已肯定的高度近视基因位点有9个,包括MYP1～MYP5,MYP11、7.2q37.1、Xq23-q25和15q12-q13.     

病理性近视相关基因定位的研究进展

病理性近视是很多国家的主要致盲性眼病之一,具有屈光度高、进行性加重、常伴有多种严重并发症等特点,部分患者也与多种眼部或全身性疾病相关联。目前普遍认为遗传因素为该病的主要致病原因,其发病机制多为单基因点突变。结合国内外研究进展,就非综合征相关的病理性近视的相关基因定位和几种病理性近视相关眼部及全身疾病基因的定位研究进展进行综述。     

病理性近视的基因位点筛查

目的通过基因组扫描和家系连锁分析，对已知病理性近视相关位点进行筛查。方法收集符合常染色体显性遗传的病理性近视家系，选取330对微卫星标记进行基因组扫描，在显性遗传模式、基因频率0．0133和外显率100％的条件下，进行二点连锁分析和多点连锁分析。结果连锁分析在9个家系中均未发现连锁位点。第12号染色体上LODs最大0．773459，最小-8．121303，第18号染色体上LODs最大0．559933，最小-8．936928，排除了与已知病理性近视基因位点MYP2和MYP3连锁。结论我国病理性近视基因位点与国外报道不同，存在遗传异质性。病理性沂视溃传模式可能不旱单一的单蕞冈常染仁．体显件诸俜。     

与近视相关基因的研究现状

近视是世界上发病率最高的眼病,与遗传因素密切相关.本文介绍近年来与近视相关基因(MYPI～MYP16、HGF、MYOC等)的筛查、定位、编码、突变的研究方式和相关进展.尽管通过分子遗传学等技术对近视研究已取得较大进展,但各位点上致病基因仍需要进一步明确.     

与近视相关基因的研究现状

近视是世界上发病率最高的眼病,与遗传因素密切相关.本文介绍近年来与近视相关基因(MYPI～MYP16、HGF、MYOC等)的筛查、定位、编码、突变的研究方式和相关进展.尽管通过分子遗传学等技术对近视研究已取得较大进展,但各位点上致病基因仍需要进一步明确.     

与近视相关基因的研究现状

近视是世界上发病率最高的眼病,与遗传因素密切相关.本文介绍近年来与近视相关基因(MYPI～MYP16、HGF、MYOC等)的筛查、定位、编码、突变的研究方式和相关进展.尽管通过分子遗传学等技术对近视研究已取得较大进展,但各位点上致病基因仍需要进一步明确.     

病理性近视的基因研究

病理性近视是引起亚洲人群视力损害的常见原因之一,它的发生与遗传因素高度相关.目前,已发现多个病理性近视的候选基因位点,包括胶原类基因、基膜类基因、生长因子类基因、转录因子类基因等,它们作用于巩膜、角膜、视网膜等不同部位从而影响眼生长发育并引起病理性近视.     

病理性近视并发白内障与正常晶状体蛋白质组差异的初步研究

白内障是人类最常见的致盲眼病,一直以手术治疗为主,缺乏有效的预防和药物治疗方法.病理性近视并发白内障是临床上较常见的一种白内障,其发生较早,发展较快,但发病机制尚未完全明了.代表后基因组时代研究重心的蛋白质组学为白内障的研究开辟了新的途径,本研究试图建立人眼晶状体蛋白质组学研究体系,比较病理性近视并发白内障和正常晶状体蛋白质谱的变化,鉴定相关蛋白质,为研究病理性近视并发白内障的发病机制及寻找有效的治疗药物奠定基础.     

息肉样脉络膜视网膜病变患者血清细胞因子检测及危险因素分析

目的:探讨息肉样脉络膜视网膜病变(PCV)患者血清细胞因子水平变化,并对其危险因素进行分析。方法:选取2018-12/2019-05我院50例PCV患者作为观察组,50例预行白内障手术的年龄相关性白内障患者作为对照组,比较两组患者血清中炎性因子与新生血管因子水平,并对其一般临床资料进行单因素及多因素Logistic分析。结果:观察组患者血清中白细胞介素-8(IL-8)、单核细胞趋化蛋白-1(MCP-1)、血管内皮生长因子(VEGF)及色素上皮衍生因子(PEDF)水平均显著高于对照组(P<0.01);两组患者吸烟史与高血压有差异(P <0.05);Logistic分析结果表明,血清中IL-8、MCP-1、VEGF、PEDF水平升高、吸烟史与高血压是PCV的独立危险因素。结论:PCV患者血清中IL-8、MCP-1、VEGF和PEDF水平均异常升高,其发生与吸烟史和高血压关系密切。     

上海张庙地区青光眼病人局部药物治疗依从性调查

Objective To survey the compliance of the glaucoma with topical ocular hypotensive medications application, to investigate the relevant factors, and to search for a useful way of preventing glaucoma for worsening and developing the health education for patients in the community of Zhangmiao, Baoshan,Shanghai. Methods A total of 190 patients were enrolled in the community of Zhangmiao Baoshan Shanghai with a diagnosis of glaueoma who used 1 or more topical ocular hypotensive medications for at least 6 months.Special questionnaire was designed for the purpose of this survey. Results The overall rate of non-compli-ance was 54.7%. The compliance was associated with age, medication application time and the extent of visual defect (OR=3.65, 0.31, 0.36, P ＜0.05). Conclusions The compliance of glaucoma with the topical medication application is poor. The survey strongly suggests that the relevant health education and interventions should be given to the glaucoma patients in this local community on regular basis.     

沙眼流行情况的研究进展

沙眼是由沙眼衣原体引起的一种慢性、传染性、致盲性眼部疾病.其发生和发展与社会环境、家庭生活特点及卫生状况等有密切关系.近年来,世界上一些国家及地区对沙眼的患病情况屡见报道,对其预防与治疗仍然是一个值得眼科医师高度重视的问题.本文就近年来沙眼的流行情况、相关危险因素、诊断及防治等各方面的研究进展进行归纳分析.     

Risk factors related to chronic rhegmatogenous retinal detachment

AIM: To evaluate the clinical factors related to chronic rhegmatogenous retinal detachment (RRD). METHODS: A retrospective case-control study. A total of 103 consecutive patients (103 eyes) with primary RRD were studied to evaluate the clinical factors related to chronic RRD. RESULTS: Chi-square test was used to sift out the following associated factors with chronic RRD: younger patients (P=0.0028), better preoperative best corrected visual acuity (BCVA, P=0.0316), atrophic retinal break (P<0.0001), inferior retinal break (P<0.0001), smaller break (P=0.0005); then the independent risk factors related to chronic RRD was determined by stepwise logistic regression analysis as following: atrophic retinal break (odds ratio (OR)=7.997, P=0.007), inferior retinal break (OR=14.127, P<0.0001) and better preoperative BCVA (OR=1.636 P<0.0722) . CONCLUSION: Atrophic retinal break, inferior retinal break and better preoperative BCVA are the independent risk factors related to chronic RRD.     

神经营养因子和生长因子等对培养的成人视网膜神经细胞的影响

目的　探讨成人视网膜神经细胞体外培养条件 ,脑源性神经营养因子 (BDNF)、神经营养素 (NT 4 )、表皮生长因子 (EGF)、成纤维细胞生长因子 (FGF)、诱导分化因子全反式视黄酸 (RA)等对成人视网膜神经细胞生长、增殖、凋亡的影响及调控机制。方法　胰蛋白酶消化结合机械吹打分离成人视网膜神经细胞 ,在培养基中加入或不加入BDNF、NT 4、EGF、FGF、RA。根据细胞形态、生长方式及免疫细胞化学特征确定细胞类型。比较各组中神经元的数目、转录调控因子c fos、c jun及细胞凋亡调控因子Bcl 2、Bax表达水平。结果　与对照组相比 ,BDNF、FGF处理组存活的神经元特异性烯醇酶、Thy1.1抗体和Bcl 2、c fos及c jun表达阳性细胞数也增多 (均P <0 0 1) ,培养的视网膜神经细胞在体外存活时间可长达 8个月 ;RA处理组c fos、c jun阳性细胞数较对照组增多 (均P <0 0 1) ;而NT 4、EGF处理组各项指标与对照组比较 ,差异无显著意义 (均P >0 0 5 )。结论　BDNF、FGF、RA能显著提高体外培养的成人视网膜神经细胞的存活 ,其机制可能涉及上调转录调控因子c fos、c jun及凋亡抑制因子Bcl 2的表达 ,或下调凋亡促进因子Bax的表达。但EGF、NT 4对体外培养的视网膜神经细胞存活状态无明显改善作用。     

Blindness registrations and socioeconomic factors in Canada: an ecologic study

purpose?To investigate the socioeconomic factors associated with blindness registration in Canada and its regions using an ecologic approach. methods?Canadian National Institute for the Blind (CNIB) blindness registration data for 1996 were divided into units of analysis using postal codes and correlated with demographic and socioeconomic information collected by the 1996 Census of Canada. A total of 1250 units were analyzed representing 28,429,519 persons (98.55% of the population of Canada). Six socioeconomic factors were examined using weighted linear multivariate regression analysis: 1) Percentage of the population aged 65 years and over; 2) Median household income; 3) Percentage of the population with university education; 4) Percentage of income derived from government transfer payments; 5) Recent immigrants; and 6) Visible minorities (blacks, Chinese, South Asians). Regression models were created for Canada as well as five geographic regions within Canada. results?For Canada as a whole, blindness registration prevalence was positively correlated with age distribution and percentage of recent immigrants, and negatively correlated with level of government assistance income and percentage ethnic Chinese population. For five regional regression models, the common predictor variables were age distribution, median household income and percentage of the population who are black. None of the regional models produced an identical set of correlations. conclusions?Socioeconomic factors associated with blindness registration prevalence varied across different regions. Median household income was the second most common factor after age distribution, suggesting that areas with lower incomes tend to utilize more blind services. Higher blindness registration rates were associated with areas that had a higher percentage of the population who were black. Differences in blindness registration rates may reflect under-utilization of blind services and/or variations in disease and treatment rates in different populations.     

早产儿视网膜病变发病因素探讨

目的探讨致早产儿视网膜病变(ROP)发生的可能危险因素。方法对43例早产儿伴发疾病、生后血气指标、就诊时间、给氧治疗等方面进行回顾性分析。结果43例早产儿中只一例发生ROP,此例与其它病例相比,只是同时伴发四种疾病,其余在治疗、血气检验、给氧等方面无明显不同。结论ROP的发生除吸氧外,是否与机体状况(同时伴发多种疾病)、出生后环境、伴发病治疗效果、种族、地理和基因等哪一个或哪几个因素有着密切相关,还有待于深入探讨。     

Prevalence of Pseudoexfoliation Syndrome Among Adult Spanish in the Salnés eye Study

Purpose: To estimate the prevalence of Pseudoexfoliation syndrome (PXF) and to investigate its relationship with systemic and ocular diseases and lifestyle factors in a general adult population in north-western Spain.

Methods: An age-stratified random sample of 1155 subjects was drawn from the population aged 40 years and over of O Salnés (Spain). From 937 eligible subjects, 619 (66.1%) participated (mean age (Standard Deviation [SD]): 63.4 (14.5) years, range: 40–96, 37.0% males). An interview to collect past history of ocular and systemic diseases and lifestyle details, and a comprehensive ophthalmic evaluation were performed. Study subjects with typical pseudoexfoliative material on the anterior capsule or in the pupil margin were labelled as having PXF. A design based analysis was performed and all calculations were weighted to give unbiased estimates.

Results: The prevalence of PXF was 6.5% (95% confidence interval [CI]:4.9–8.1). PXF rates increased significantly with age (P?=?0.000). No cases of PXF were detected in subjects between 40 and 60 years. Prevalence of PXF was 8.0% (95% C I5.4–11.6) in men and 5.4% (95% CI 3.8–7.6) in women (P?=?ns). The prevalence of glaucoma in subjects with PXF was 19.6% (95% CI 8.2–40.0). After controlling for age and sex, glaucoma, cataract surgery, rose bengal staining and diabetes were associated with PXF but only glaucoma and rose bengal staining associations remained significant in a multivariate model.

Conclusions: PXF is common among older individuals in north-western Spain. Subjects with pseudoexfoliation have a significantly higher prevalence of glaucoma than subjects without. An abnormal ocular surface detected by rose bengal staining is highly prevalent among subjects with pseudoexfoliation.     

非缺血型视网膜中央静脉阻塞的临床特点研究

目的 探讨非缺血型视网膜中央静脉阻塞(CRVO)患者在≤40岁和＞40岁年龄组中的发病特点和发病危险因素及其视力预后.方法 回顾性系列病例研究.将随访6个月以上的非缺血型CRVO患者按年龄分为≤40岁和＞40岁组两组,对其临床资料进行回顾性分析,包括矫正视力、眼底彩色照像及荧光素眼底血管造影检测资料等.结果 共148例(151只眼)CRVO患者,随访时间6个月至15年,平均1年零5个月.其中≤40岁组39例(40只眼),发病年龄15～40岁,平均27岁;男性20例(20只眼),占51%;女性19例(20只眼),占49%.＞40岁组共109例(111只眼),发病年龄41～76岁,平均57岁;男性53例(54只眼),占49%;女性56例(57只眼),占51%.≤40岁组中,仅有2例患者有高血压病史,无其他全身疾病;而＞40岁组中,40%以上的患者合并有全身疾病史(包括高血压和糖尿病等).两组患者初诊视力差异无统计学意义(Pearson检验,x2=0.087,P=0.769).但两组间末诊视力差异有统计学意义Pearson检验,x2=4.692,P=0.047);其中≤40岁组中,有18只眼视力≥0.3(45%);＞40岁组中,有25只眼视力≥0.3(23%).＞40岁组中发生并发症的患者较≤40岁组中明显增多,两组间差异有统计学意义(Pearson检验,x2=8.763,P=0.006).结论 高血压或糖尿病等全身性疾病为＞40岁组患者CRVO的致病危险因素,但对视力预后无明显影响.≤40岁组患者较少发生并发症,视力预后虽然较＞40岁组者佳,但仍有35%的患者末诊视力≤0.1.相比之下＞40岁组患者视力预后较差,发生并发症者较多.两组患者均需积极治疗.     

生长因子诱导的血管内皮细胞增殖作用的研究

目的 研究生长因子对血管内皮细胞增殖活动的诱导和刺激作用。以进一步探讨生长因子在视网新生血管疾病中所起的作用。方法 采用血管内皮生长因子（VEGF）和碱性成纤维生长因子（bFGF）诱导离体培养的血管内皮细胞的增殖。研究VEGF及bFGF对血管内皮细胞DNA合成、细胞生长和细胞周期的调控，以及两种因子的协同效应。结果 VEGF及bFGF均可显著刺激血管内皮细胞的增生，其刺激效应与生长因子浓度呈剂量依赖关系。共同作用时，具有协同效应。两种因子均可显著增加^3H-TdR的掺入量，其刺激作用与浓度呈剂量依赖关系，共同作用时亦具有协同效应。VEGF和bFGF均可显著地产加S期细胞的比例。结论 VEGF及bFGF均可显著地刺激内皮细胞的增殖，促进细胞DNA的合成。两种因子联合应用时，具协同效应。提示：两种生长因子在视网膜新生血管的发生和发展中可能具有一定作用，且存在因子间的协同效应。