先天性无虹膜合并先天性白内障家系致病基因突变分析

目的：对先天性无虹膜合并先天性白内障家系进行PAX6基因突变位点筛查,丰富该致病基因的突变谱。

方法：选取就诊于北京同仁医院眼科门诊的1个先天性无虹膜合并先天性白内障家系和100名健康志愿者,采集外周静脉血,提取基因组DNA,采用直接测序法进行PAX6基因突变位点的筛查。

结果：该家系中先证者和其他患者均表现为无虹膜合并白内障,PAX6基因测序结果显示,该致病基因第11外显子无义突变c.991 C>T,造成PAX6基因编码的蛋白截短(R331X),从而使该蛋白失去功能,且该突变在家系内与疾病表型共分离,不存在于家系内及家系外健康样本的基因中。

结论：PAX6 R331X突变与先天性无虹膜合并先天性白内障的发生有关。     

年龄相关性白内障术后发生感染性眼内炎的病原学特点及相关因素

目的：探究年龄相关性白内障手术后发生感染性眼内炎的病原学特点及相关因素与预防。

方法：回顾性分析本院2016-01/2018-01收治的1 365例年龄相关性白内障患者,统计患者感染性眼内炎发生情况,并分析感染性眼内炎病原学特点及相关危险因素。

结果：患者28例发生感染性眼内炎,共检出病原菌36株,其中表皮葡萄球菌9株(25.00%),铜绿假单胞菌9株(25.00%),芽孢杆菌8株(22.22%)。铜绿假单胞菌、芽孢杆菌对头孢唑林、头孢噻肟、阿莫西林具有较强的耐药性; 对头孢哌酮-舒巴坦、美罗培南的敏感性较高; 表皮葡萄球菌对青霉素、红霉素、阿奇霉素有较强的耐药性,对万古霉素、呋喃妥因、米诺环素的敏感性较高。Logistic多因素回归分析,年龄(≥70岁)、糖尿病、手术时间(≥15min)、术中玻璃体溢出是年龄相关性白内障术后发生感染性眼内炎的独立危险因素(P<0.05)。

结论：年龄相关性白内障手术后感染性眼内炎病原菌以表皮葡萄球菌、铜绿假单胞菌、芽孢杆菌多见。年龄(≥70岁)、糖尿病、手术时间(≥15min)、术中玻璃体溢出为年龄相关性白内障手术后发生感染性眼内炎的独立危险因素。     

高糖诱导的人晶状体上皮细胞葡萄糖关键代谢酶的表达

目的：探讨葡萄糖关键代谢酶在高糖诱导的人晶状体上皮(HLEB3)细胞中的表达情况。

方法：将体外培养的HLEB3细胞分为正常对照组(采用DMEM培养液培养,含葡萄糖5mmol/L)、氧化应激组(采用含H₂O₂ 200μmol/L的DMEM培养液培养)、高糖诱导组(采用含葡萄糖30mmol/L的培养液培养),培养24h后检测细胞凋亡情况和细胞活力及6种葡萄糖关键代谢酶(6-磷酸果糖激酶-1、丙酮酸激酶、己糖激酶、柠檬酸合成酶、α-酮戊二酸脱氢酶、6-磷酸葡萄糖脱氢酶)的mRNA表达情况。

结果：高糖诱导HLEB3细胞凋亡,高糖诱导组(63.43%±3.40%)细胞活力低于正常对照组(100.00%±0.00%)和氧化应激组(91.90%±5.11%),且高糖诱导组细胞6种葡萄糖代谢关键酶的mRNA表达水平均低于正常对照组和氧化应激组(均P<0.05)。

结论：高糖可以诱导HLEB3细胞葡萄糖关键代谢酶的表达水平降低,诱导细胞凋亡,影响细胞活性。     

糖尿病性白内障患者糖代谢异常、胰岛素抵抗与房水及血清中炎症因子的相关性分析

目的：通过测定糖尿病性白内障患者血清中糖代谢指标、胰岛素抵抗与房水和血清中炎症因子的水平,探讨其相关性。

方法：随机选取我院2017-02/2018-01糖尿病性白内障患者69例(观察组)和白内障患者65例(对照组),检测两组患者血清中糖化血红蛋白(HbA1c)、空腹血糖(FPG)、空腹胰岛素(FINS)的水平,计算胰岛素抵抗指数(HOMA-IR); 同时检测房水和血清中的胰岛素样生长因子-1(IGF-1)、白细胞介素-6(IL-6)含量,对HbA1c、HOMA-IR与房水和血清中IGF-1、IL-6含量进行相关性分析。

结果：对照组血清中的FPG、HbA1c、HOMA-IR,以及房水和血清中IGF-1、IL-6含量显著低于观察组,差异有统计学意义(均P<0.05)。HbA1c与房水及血清中的IGF-1和IL-6均呈正相关(P<0.05)。HOMA-IR与房水及血清中的IGF-1和IL-6均呈正相关(P<0.05)。

结论：糖尿病性白内障患者HbA1c、HOMA-IR与房水及血清中的IGF-1、IL-6含量具有相关性,通过对上述指标的测定可以辅助判断病情。     

超长眼轴白内障手术前后眼生物测量参数变化及相互关系

目的：研究超长眼轴白内障患者超声乳化手术前后眼生物测量参数变化及其相互关系。

方法：收集2013-09/2015-03在首都医科大学宣武医院眼科确诊为白内障,且行白内障超声乳化联合人工晶状体植入术患者44例61眼,其中超长眼轴组20例29眼,正常眼轴对照组24例32眼。术前应用光学相干生物测量仪(IOL Master)测量眼生物参数,术后3mo应用IOL Master及超声生物显微镜(UBM)测量眼生物参数,应用SPSS17.0统计软件进行统计学描述并分析其变化及相互关系。

结果：超长眼轴组术后前房深度与年龄、术前眼轴长度、术前角膜曲率无相关性(P>0.05)。术后前房深度与术前前房深度呈正相关(r=0.402,P=0.031)。超长眼轴组术后3mo相比术前,眼轴长度显著缩短,角膜曲率增加,前房深度较术前显著增加(P<0.05)。正常眼轴对照组术后前房深度与年龄、术前眼轴长度、术前前房深度无相关性(P>0.05),术后前房深度与术前角膜曲率呈正相关(r=0.538,P=0.001)。正常眼轴对照组术后3mo较术前,眼轴长度显著缩短,前房深度显著增加(P<0.05),角膜曲率无改变(P>0.05)。手术前后,超长眼轴组相比正常眼轴对照组角膜曲率变化更大(P<0.05); 眼轴长度变化百分率、前房深度变化百分率,两组差异无统计学意义(P>0.05)。

结论：超长眼轴白内障患者术后眼轴长度缩短,角膜曲率增加,在计算人工晶状体度数时应增加一定度数,以便获得更佳的术后视力。超长眼轴白内障患者的术后前房深度预测具有复杂性与个体差异的不可预知性,需要进一步研究。     

Safety & efficacy of single subconjunctival triamcinolone 5 mg depot vs topical loteprednol post cataract surgery: less drop cataract surgery

AIM: To do a randomized prospective interventional study for comparing the effects of a single subconjunctival triamcinolone acetonide (SCTA) injection to tapering topical loteprednol in patients undergoing phacoemulsification surgery under topical anesthesia. METHODS: A total of 400 patients were randomized into 2 groups; Group A (200 patients) received 5 mg SCTA at the end of surgery and topical ketorolac tromethamine (0.5%) with ofloxacin (0.3%) combination for 3wk. Group B (200 patients) received tapering topical loteprednol etabonate (0.5%) along with ofloxacin (0.3%) and ketorolac tromethamine (0.5%) for 3wk. Outcomes evaluated were intraocular pressure (IOP), anterior chamber cells/flare and macular oedema postoperatively at 1, 6 and 12wk. RESULTS: Baseline parameters were almost similar in both the groups. No statistical difference was seen between the preoperative and postoperative IOP values for Group A (P=0.82) and Group B (P=0.61) and postoperative IOP values in between both groups (P=0.14) at 1wk. Incidence of cells/flare postoperative was statistically not significant (P=0.82) in both groups at all follow up visits. Postoperative macular oedema was not observed at any follow up visit. CONCLUSION: SCTA appears to be an effective alternative to prolong postoperative topical steroid use.     

The impact of GJA3 SNPs on susceptibility to age-related cataract

AIM: To determine the association of gap junction protein alpha 3 (GJA3) gene tag single-nucleotide polymorphisms (SNPs) with susceptibility to age-related cataract (ARC). METHODS: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of GJA3 gene were selected from the HapMap Beijing Han Chinese population. Genomic DNA was extracted from the peripheral blood leukocytes of all the subjects. Under three different genetic models: dominant, recessive, and additive, the association between SNPs and ARC was examined. After adjusting for age and sex, the genetic effects of the GJA3 SNPs were evaluated with logistic regression analysis. RESULTS: Four tag GJA3 SNPs (rs6490519, rs9506430, rs9509053, and rs9552089) were included in the present study. None of the SNPs showed a significant relationship with an altered risk of total ARC under the dominant, recessive, or additive models. In the subgroup analysis, rs9506430 had a significant effect on the formation of a posterior subcapsular cataract (P=0.002, OR: 0.227, 95%CI: 0.088-0.590) under the recessive model. CONCLUSION: Our study indicates that GJA3 variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility.     

Dynamic profile of ocular refraction in pediatric cataract patients after lens surgeries

AIM: To study the change in ocular refraction in patients with pediatric cataracts (PCs) after lens extraction. METHODS: A total of 1258 patients who were undergoing cataract extraction with/without intraocular lens (IOL) implantation were recruited during preoperative examinations between Jan 2010 and Oct 2013. Patient ages ranged from 1.5mo to 14y. Follow-ups were conducted at 1wk, 1, and 3mo postoperatively and every 3mo in the first year, then 6mo thereafter. Ocular refraction [evaluated as spherical equivalent (SE)] and yearly myopic shift (YMS) were recorded and statistically analyzed among patients with age at surgery, baseline ocular refraction, gender, postoperative time and laterality (bilateral vs unilateral). RESULTS: By Dec 31st 2015, 1172 participants had been followed for more than 2y. The median follow-up period was 3y. The critical factors affecting the ocular refraction of PC patients were baseline ocular refraction, postoperative time for both aphakic and pseudophakic eyes. YMS grew most rapidly in young childhood and early adolescence. CONCLUSION: After lens surgeries, ocular refraction in PC patients shows an individual difference of change. Further concerns should be raising to monitor the rapid myopic shift at early adolescence of these patients.     

Alpha角对多焦点人工晶状体植入术后视觉质量影响

研究不同Alpha角对多焦点人工晶状体（MIOL）植入术后视觉质量的影响,指导功能性IOL的应用。方法：前瞻性临床研究。选取2016年12至2018年10月就诊于潍坊眼科医院行白内障超声乳化吸除联合MIOL植入术患者56例（74眼）,根据Alpha角大小（角膜上视轴与光轴的距离α）分为3组： A组12眼（0 mm<α≤0.2 mm）,B组38眼（0.2 mm<α≤0.4 mm）,C组24眼（α>0.4 mm）。术后随访3个月,记录裸眼远、中、近视力以及调制传递函数、眩光、光晕等情况。数据采用卡方检验、方差分析进行统计。结果：B组和C组光晕和眩光发生率高于A组,差异有统计学意义（χ2 =38.372,P=0.01）; 3组间术后3个月远、中、近视力比较差异无统计学意义（均P>0.05）;3组间MTF值在0～30 c/d范围差异无统计学意义（P>0.05）;夜间远视、重影、混合焦点、星芒的发生率差异均无统计学意义（均 P>0.05）。结论：当Alpha角大于0.4 mm时,植入MIOL会增加眩光和光晕的发生,所以Alpha角>0.4 需谨慎考虑使用MIOL。     

Functional and anatomical evaluation of the effect of nepafenac in prevention of macular edema after phacoemulsification in diabetic patients

AIM: To evaluate the effect of prophylactic administration of nepafenac in prevention of macular edema occurring in diabetic patients after phacoemulsification and to investigate the correlation between optical coherence tomography (OCT) foveal thickness and multifocal electroretinogram (MF-ERG) parameters. METHODS: The study included two groups. Group 1 included 50 diabetic patients with senile cataract (50 eyes, 30 females, 20 males, aged 55±7y) received nepafenac 0.1% eye drop. Group 2 included another 50 diabetic patients with senile cataract (50 eyes, 22 female, 28 males, aged 53.8±8y) did not receive nepafenac. All patients were followed up for 3mo postoperatively. OCT and MF-ERG were done preoperative and at 1wk, 1, 2 and 3mo. RESULTS: The mean foveal thickness was statistically significantly lower in Group 1. Five eyes in Group 2 developed clinical cystoid macular oedema (CMO) (10%), and no patients in Group 1 developed central macular thickening more than 50 μm. There were insignificant differences in MF-ERG amplitudes and latencies between the two groups except in the five eyes that developed CMO, there statistically significant reduction of MF-ERG amplitude with increase in foveal thickness. CONCLUSION: Perioperative nepafenac reduces the incidence of CMO following uncomplicated phacoemulsification significantly. Nepafenac has no side effects.