【作者】 李鑫；

【导师】 赵培泉；

【作者基本信息】 上海交通大学 ， 眼科学， 2017， 博士

【摘要】 目的:回顾性研究X连锁先天性视网膜劈裂症(X-linked retinoschisis,XLRS)患儿的临床表现特点,分析远期并发症发生的危险因素及其治疗与预后,探讨疾病的分期分型。对象和方法:本研究纳入自2007年12月至2017年3月经临床检查确诊为XLRS的患儿97人(194眼)。所有患儿三岁以下及不配合者,采用RetcamIII视网膜成像系统拍摄眼底照片;三岁以上及配合者,采用欧堡optos 200TX、裂隙灯显微镜行眼部检查。部分患儿行全麻下眼底血管荧光造影(FFA),光学相干断层扫描(OCT),及电生理(VEP+ERG)检查视网膜功能。总结归纳患儿的临床表现特征,探讨针对X连锁先天性视网膜劈裂症的临床分期分型方法。分析并发症发生的危险因素。将患儿分为预防性激光组(LIO)和对照组,观察分析预防性激光的临床意义。对发生严重并发症的患儿采取手术干预,分析手术疗效及预后。本研究中患儿的诊疗均由同一位经验丰富的医师完成。结果:97例患儿194眼,均为男性患儿(100%)。患儿初诊年龄为:3~195月,平均54.55±37.21月;首诊时<7岁(84月)以下患儿共80例(82.47%),3岁以下(≤36月)患儿有35例(36.08%)。误诊漏诊率达26.80%(26例)。8眼(4.12%)在首诊时出现继发性白内障。143眼(73.71%)患儿表现典型的黄斑劈裂;156眼(80.41%)表现有明显的周边视网膜劈裂腔,内层视网膜呈现不同程度的隆起;19眼(9.79%)眼底见不同程度的渗出性病灶。97例患儿中,27例(27.84%)49眼行FFA检查,其中14眼(28.57%)观察到血管分支增多;6眼(12.24)可见末梢血管迂曲扩张伴荧光渗漏,其中一眼彩照可见沿血管旁渗出形成血管鞘,FFA下呈现少量荧光渗漏;14眼(28.57%)观察到明显的黄斑区荧光积聚。194眼中,共有51眼(26.29%)出现严重的并发症,包括继发性白内障(8.76%),视网膜脱离(12.37%),重度玻璃体积血(8.25%),黄斑板层裂孔(2.58%),全层黄斑裂孔(0.52%)。预防性视网膜激光组和观察组并发症的发生率没有统计学差异。24例32眼(16.49%)因并发症接受了手术治疗,术后23例31眼(96.88%)均达到解剖学复位,较术前好转。随访过程中13眼(40.63%)再次出现并发症,其中9眼(28.13%)接受二次手术治疗,术后情况良好。结论:X连锁先天性视网膜劈裂症是一种先天性玻璃体视网膜疾病,可发生严重并发症,威胁视力。XLRS的表现型具有高度多样性,双眼病变严重程度可不对称,早期(学龄前)即可发生严重并发症。XLRS可存在渗出性病变,眼底荧光素钠血管造影检查可见血管异常及荧光渗漏。预防性间接眼底镜视网膜激光光凝术对于预防并发症的发生无明显统计学意义,手术治疗是解除严重并发症的有效方法之一。“早发现、早诊断、密切随访、及时治疗”是提高XLRS视力预后的关键。更多还原

【Abstract】 Objectives: To analyze the clinical characteristics,the risk factors of longterm complications and treatments in a pediatric cohort of X-linked retinoschisis and define the classification system of the disease.Subjects and Methods: 97 children(194 eyes)referred to our department with a diagnosis of XLRS from December 2007 to March 2017 are included in this study.Clinical data of ocular manifestations,auxiliary examinations,ocular treatments and outcomes,follow-ups,and family history were collected in order to summarize the clinical features of a pediatric cohort,and to define the clinical staging and classification of Xlinked retinoschisis.Risk factors for the occurrence of complications and the clinical effect of preventive laser photocoagulation were analyzed.Surgical interventions were performed on children with severe complications.The diagnosis and treatments in this study were performed by the same experienced ophthalmologist.Results: 97 children(194 eyes)were all male(100%)in this study.The average age of these children was 54.55 ± 37.21 months,range from 3 to 195 months.A total of 80 children(82.47%)were younger than 7 years old at the first visit.35 children(36.08%)were younger than 3 years old.Misdiagnosis rate was 26.80%(26 cases).8 eyes(4.12%)developed secondary cataract at the first visit.143 eyes(73.71%)presented typical macular schisis with a spoke-wheel pattern.156 eyes(80.41%)presented peripheral schisist.Exudative lesions were observed in 19 eyes(9.79%).49 eyes of 27 patients(27.84%)underwent fundus fluorescein angiography(FFA).FFA findings included vascular abnormalities(14 eyes,28.57%),peripheral vascular tortuous expansion with fluorescence leakage(6 eyes,12.24%)and macular fluorescence accumulation(14 eyes,28.57%).51 eyes(26.29%)developed severe complications,including retinal detachment(12.37%),severe vitreous hemorrhage(8.25%),lamellar macular hole(2.58%),secondary cataract(8.76%)and full-thickness macular hole(0.52%).There was no statistically significant difference in the incidence of complications between the prophylactic laser group and the observation group.32 eyes of 23 patients(16.49%)underwent surgical interventions.23 patients(96.88%)achieved anatomical reduction after surgeries.Postoperative complications were observed in 13 eyes(40.63%),of which 9(28.13%)received secondary surgery.Conclusions: X-linked retinoschisis is a congenital macular degeneration and vitreoretinopathy.There is a wide range of long-term visionthreatening complications.There is a high variety in the phenotype of XLRS with asymmetry manifestation and early-onset of severe complications.The presence of exudation and concurrent vascular leakage and vascular anomalies on FFA are common in XLRS.Preventive LIO may be helpless in preventing complications and surgical intervention is the only effective treatment.“Early discovery,early diagnosis,close clinical follow-up and timely treatment” is crucial in improving the prognosis of XLRS.更多还原