全域扫频OCTA与荧光素眼底血管造影在糖尿病视网膜病变应用中的对比分析

目的 比较全域扫频光学相干断层扫描血管造影（OCTA）与荧光素眼底血管造影（FFA）对糖尿病视网膜病变（DR）的诊断价值。方法 选取2022年2月至2022年4月就诊于安徽医科大学第二附属医院眼科门诊的糖尿病视网膜病变患者35例（70眼）,每位患者均使用超广角彩色眼底照相（UWF CFP）检查。采用全域扫频OCTA和FFA分别检查受试者视网膜,并分析两者对视网膜微血管瘤（MA）、视网膜新生血管（RNV）、视网膜无灌注区（NPAs）、视网膜内微血管异常（IRMA）、糖尿病性黄斑水肿（DME）的检出率差异。结果 全域扫频OCTA中MA、RNV、NPAs、IRMA、DME的检出率与FFA相比,差异无统计学意义（P>0.05）,全域扫频OCTA与FFA对DR的筛查、诊断、分类一致性良好（Kappa值>0.75）。结论 全域扫频OCTA在DR应用中具有广阔的前景,可作为DR无创性筛查、诊断、随访的重要依据。     

Role of anterior retinal cryoablation in the management of neovascular glaucoma

In a prospective study, the effect of anterior retinal cryoablation (ARC) in the management of neovascular glaucoma (NVG) was evaluated over two years, in 72 patients (74 eyes). The outcome of trabeculectomy/seton surgery preceded by 360° ARC was also analysed in 12 eyes of 12 patients (6 eyes in each group). Following ARC, pain relief with dramatic regression of anterior chamber inflammatory reaction was observed in 95% of the patients (59 eyes). At the end of the follow up, as confirmed by iris fluorescein angiography, regression of neovascularization of the iris was documented in 93.5% (58 eyes) of the cases. Intraocular pressure control (22 mm Hg) was achieved in 82.3% (51 eyes) cases. IOP control of 22 mm Hg was achieved in all the 6 eyes with the seton surgery following ARC. Similarly, control of IOP was successfully achieved in all the 6 eyes of patients with NVG with trabeculectomy with post operative course of 5-fluorouracil following ARC. ARC is strongly recommended in NVG, especially in eyes with media opacities and as a preliminary procedure for filtering surgery or drainage implant surgery.Abbreviations ARC Anterior retinal cryoablation - NVG Neovascular glaucoma - NVI Neovascularization of the iris     

Congenital lens coloboma and associated pathologies

Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies. One case included retinal detachment; another included an iris coloboma; and a third included iris, choroid and optic disk colobomas and retinal detachment with lens coloboma. The remaining two cases were without associated ocular anomalies. The pathogenic mechanisms and relationship of this defect with the differentiation of the tertiary vitreous and development of the zonule is discussed. The defect most likely occurs in the third to fourth months of gestation during differentiation of the tertiary vitreous in response to toxic, inflammatory or genetic factors.     

Vitreoretinal toxicity of basic fibroblast growth factor

Basic fibroblast growth factor (b-FGF) is one of the multifunctional growth factors with important therapeutic potential in the field of ophthalmology. It is also implicated in pathogenesis of vitreoretinal proliferative diseases. In the present study, we evaluated its vitreoretinal toxicity by means of clinical observation, electroretinography (ERG), and histopathology after injection of different doses of b-FGF into the vitreous of rabbit eyes. Doses of b-FGF up to 2 g per eye caused no toxicity; however, injection of 4 g or more resulted in sight-threatening vitreoretinal proliferative changes. This information is important for studies aimed at evaluating the therapeutic potential of b-FGF in retinal diseases.Despite some degree of vitreous organization and opacification, retinal folds, and small areas of traction retinal detachment, the amplitudes of ERGs were normal or even increased (hyperpolarization) in eyes which received 8 g of b-FGF.     

巩膜外冷凝联合巩膜扣带术治疗视网膜脱离

目的 研究巩膜外冷凝联合巩膜扣带术治疗视网膜脱离的疗效。方法 在视网膜裂孔对应的巩膜外冷凝、放出视网膜下液、巩外加压。结果 随诊1mo以上,35眼中,32眼达到解剖复位,成功率为91．43％。结论 巩膜外冷凝联合巩膜扣带术治疗视网膜脱离,手术操作简单,手术反应轻,疗效满意,是一理想的手术方法。     

川芎嗪对兔眼高压下视网膜神经节细胞和双极细胞损伤的保护作用

目的　观察川芎嗪对慢性眼高压下视网膜神经细胞损伤的保护作用 .方法　用 2 0 g· L- 1 甲基纤维素前房注射法建立兔慢性眼高压模型 .4组分别给予生理盐水、川芎嗪注射液 10 mg· kg- 1 ,2 .5 g· L- 1 噻吗心安眼液和联合应用川芎嗪与噻吗心安 ,连续用药 4wk.于 2 8d取眼球作光镜、电镜检查和光镜下细胞计数 .结果　生理盐水组模型眼节细胞数为 (7.83± 1.34 )个 /10格 ,双极细胞数为 (10 .6 6± 1.6 3)个 /格 ;川芎嗪组模型眼节细胞数为 (9.5 0± 3.87)个 /10格 ,双极细胞数为 (12 .5 0± 2 .73)个 /格 ;生理盐水组模型眼和川芎嗪组模型眼节细胞 (P<0 .0 5 )与双极细胞 (P<0 .0 5 )比较 ,有显著性差异 .生理盐水组模型眼节细胞变性、坏死 ,锥、杆细胞外节紊乱 ,色素上皮不完整 ,川芎嗪组变化比生理盐水组轻 ,联合用药组变化最小 .结论　川芎嗪对慢性眼高压下视网膜神经节细胞和双极细胞具有保护作用 .     

黄斑裂孔性视网膜脱离的手术治疗

目的 不同术式治疗黄斑裂孔性视网膜脱离的疗效。方法 对22例22眼黄斑裂孔性视网膜脱离患者分别行4种术式：A组,单纯玻璃体腔注气（C3F8）10眼;B组,玻璃体切割＋注气术12眼;C组,玻璃体切割＋自体血清滴注＋注气术4眼;D组,巩膜外垫压＋注气术2眼。结果A组5（5／10眼视网膜复位,黄斑孔闭合,最高视力0．7;但5（5／10）眼随访中黄斑裂孔再开。B组11（11／12）眼视网膜复位,最高视力0．4。C组（3（3／4）眼视网膜复位,黄斑孔闭合,最高视力0．4。D组2（2／2）眼网膜均复位,最高视力0．2。结论（1）单纯玻璃体腔注气术简单易行,可重复多次,对黄斑裂孔性视网膜脱主有一定疗效,但术后复发率较高。必要时应联合巩膜外环扎或垫压。（2）玻璃体切割＋注气术与玻璃体切割＋自体血清滴注＋注气术对黄斑裂孔性视网膜脱离均有较好的治疗效果,但增加自体血清滴注并未显示好处,因此是否需要有待进一步观察研究。     

玻璃体视网膜联合术治疗急性视网膜坏死性视网膜脱离

目的 :研究治疗急性视网膜坏死性视网膜脱离的玻璃体视网膜联合手术效果。方法 :急性视网膜坏死性视网膜脱离 4例患者 ,1例行超声乳化白内障吸出加玻璃体切除加眼内光凝加硅油填充加巩膜环扎术 ;2例行玻璃体切除加眼内光凝加C3F8填充术 ;1例行玻璃体切除加眼内光凝加硅油填充术。结果 :4例患者的炎症均控制良好 ,视网膜均成功复位。随访 9个月～ 3年 ,4例视力分别为 0 0 1(矫正视力 0 12 ) ,0 15,0 1,0 3。结论 :视网膜脱离是急性视网膜坏死的严重并发症 ,通过玻璃体视网膜联合手术 ,可有效地提高视网膜脱离的复位率 ,挽救患者的视功能。     

全外显子组测序和目标序列靶向捕获测序在遗传性视网膜变性基因诊断中的差异

目的:对比外显子组测序(whole exome sequencing,WES)和目标序列靶向捕获测序检测中国遗传性视网膜变性(inherited retinal dystrophies,IRDs)患者致病基因变异的差异。方法:收集182例IRDs家系,所有先证者均接受系统的眼科检查和必要的全身检查,采集患者及家属血样并提取基因组DNA。按照就诊的时间顺序将患者平均分为两组,一组91例接受WES,另一组91例应用本课题组设计并定制的“遗传性眼病基因诊断芯片” (hereditary eye disease enrichment panel,HEDEP)进行IRDs致病基因外显子区域靶向捕获测序。对候选致病基因用Sanger测序进行验证,并对家系成员进行共分离分析,使用多重连接依赖的探针扩增技术对拷贝数变异进行验证,针对二代测序捕获效率低的区域如RPGR ORF15区,应用Sanger 测序补充检测。根据美国医学遗传学与基因组学学会和分子病理学协会(American College of Medical Genetics and Genomics and the Association for Molecular Pathology,ACMG/AMP)制定的《ACMG/AMP基因变异分类标准与指南》将检测到的所有基因变异进行分类,本文只包含“致病的”、“可能致病的”的基因变异,不包含“意义不明确的”、“可能良性的”和“良性的”基因变异。结果:应用HEDEP确诊的家系共51例,阳性率为56.04%(51/91);应用WES确诊的家系共30例,阳性率为33.00%(30/91);总阳性率44.51%(81/182)。平均测序深度以及测序覆盖度方面,HEDEP优于WES,此外HEDEP具有检测拷贝数变异潜力。本研究共检测到29个IRDs基因的致病突变,最常见的致病基因为USH2A、ABCA4和RPGR,基因突变频率分别为11.54%(21/182)、6.59%(12/182)、3.85%(7/182);共发现43个新的致病突变,并检测到6例家系携带RPGR ORF15区的突变。结论:针对临床确诊的IRDs病例,HEDEP较WES能获得更高的基因诊断阳性率和更精确的诊断结果,可作为IRDs基因诊断的首选方法,WES可作为其他基因诊断方法的补充手段。同时,本研究丰富了IRDs致病基因的突变频谱,为将来IRDs基因诊断、遗传咨询和基因治疗奠定了基础。