小睑裂综合征16例的临床观察和治疗

目的探讨小睑裂综合征的临床特点，手术效果及遗传学研究进展。方法回顾性分析我院１９９２年１１月至１９９７年３月间收治的小睑裂综合征１６例。结果其中４例同时行内外眦开大和上睑下垂矫正术，１２例先行内外眦开大术，２周或３个月后行上睑下垂矫正术；７例有完整的散瞳验光结果，６例双眼有不同程度的弱视；随访时间３个月～５年４个月。结论小睑裂综合征病人屈光不正和弱视的发生率远高于正常人群，应尽早手术治疗，然而术后功能及美容效果尚不满意     

小睑裂综合征三家系报告

小睑裂综合征是一种先天性遗传病,其表现为双眼上睑下垂、睑裂窄小、倒向内眦赘皮,内眦远距,常合并眼外异常。在我国群体发病率为0.17‰[1]。现将笔者所遇小睑裂综合征3家系21例报告如下。家系Ⅰ先证者女18岁因出生后双睁眼困难而入院,否认眼部红痛、外伤史。右眼裸眼视力0.3,不能矫正;左眼裸眼视力0.5,矫正视力0.8(-1.50DS-2.00DC×130°)。睑裂宽度:双眼均为1mm,睑裂长度:右18mm,左19mm。倒向内眦赘皮。内眦间距45mm。提上睑肌肌力0mm。眼球无震颤。双眼球结膜无充血、角膜透明、前房深度正常,瞳孔直径3mm,对光反射灵敏,晶状体及玻璃体…     

改良Y-V成形及额肌瓣悬吊治疗小睑裂综合征

目的 探讨小睑裂综合征的临床特点及手术效果。方法 回顾性分析我院2002年3月至2006年7月间收治的小睑裂综合征15例。结果术后随访3～36个月,Y-V成形及额肌瓣悬吊Ⅰ期手术治疗的15例患者,术后睑裂长度平均增长3～5mm;睑裂宽度增大3～6mm;双眼内眦间距缩短7～12mm。结论 改良Y-V成形及额肌瓣悬吊Ⅰ期手术治疗小睑裂综合征患者效果肯定。小睑裂综合征患者应尽早手术治疗。     

先天性小睑裂综合症的临床特征与手术治疗

目的 探讨先天性小睑裂综合症的临床特征与手术治疗。方法 对16例小睑裂患者,Ⅰ期行内眦成形术或内外眦成 形术,Ⅱ期行上睑下垂矫正术。术后随访1月-2年。结果 经对术前和随访时结果的比较,证实可达到开大睑裂和充分上提 上睑的目的。结论 分二期手术治疗先天性小睑裂综合症,效果满意。     

先天性小睑裂综合征临床手术疗效分析

目的探讨先天性小睑裂综合征的手术治疗效果。方法回顾性分析先天性小睑裂综合征患儿23例（46眼）,年龄2～11岁,均伴有其他眼疾或全身疾病。所有患儿同期行双眼内眦赘皮矫正＋额肌腱膜悬吊术。内眦赘皮矫正采用的术式有4种,其中Y—V成形术2例、Stallars“Z”成形术7例、Speath术式5例及经典的Mastands内眦成形术9例。上睑下垂矫正采用额肌腱膜悬吊术。术后随访1～24个月,观察睑裂长度、睑裂高度、内眦间距及眉睑距等参数变化。术后1、6、18个月分别检查三棱镜斜视度。采用配对t检验对手术前后患者的睑裂长度、睑裂高度、内眦间距及眉睑距等进行比较。结果23例患儿均顺利完成手术。术后睑裂长度及高度均有明显提高,内眦间距及眉睑距明显缩小。术后1个月,睑裂长度由术前的（18．5±1．1）mm增长至（23．4±1．2）mm,睑裂高度由术前的（2．1±1．2）mm增高至（6．7±0．9）mm,内眦间距由术前的（3512±1．4）mm减小至（31．1±1．1）mm,眉睑距由术前的（13．6±1.3）mm减小至（9．8±1．2）mm,与术前比较,差异均有统计学意义（t分别为4．985、10．832、2．143和4．171,P均〈0．05）。术后1个月,仅见暴露性角膜炎1例,未见其他并发症。术后6、18个月的随访数据与术后1个月比较,差异均无统计学意义（P〉0．05）,表明手术疗效在术后1个月时保持稳定。结论对于先天性小脸裂综合征,早期双跟周期行内眦赘皮矫正联合额肌腱膜悬吊术是比较理想的治疗手段．     

先天性小睑裂综合征家系分析及手术治疗

0引言先天性小睑裂综合征(congenital blepharophimosis syndrome),又称睑裂狭小-上睑下垂-倒向型内眦赘皮综合征(blepharophimosis-ptosis-epicanthus inversus syndrome,BPES)和小睑裂畸形,是一种少见的常染色体显性遗传病。临床表现为睑裂狭小,上睑下垂,反向内眦赘皮,内眦间距增宽。本文对一组先天性小睑裂综合征病例进行家系分析,全部采用同期手术治疗方法,有效地改善了患者外观,取得满意效果。1临床资料本组患者为2008/2010年在我院眼科病房收治的20例小睑裂综合征,其中男10例,女10例,计40眼。     

家族性先天性睑裂狭小综合征

0引言先天性睑裂狭小综合征（congenital blepharophimosis syndrome）是一种先天异常,又称睑裂狭小-上睑下垂-倒向型内眦赘皮综合征（blepharophimosis-ptosis-epicanthus inversus syndrome,BPES）[1],以睑裂狭小为特征,     

手术矫治小睑裂综合征

1994年 3月至 1999年 4月 ,我院采用改良的Ｙ Ｖ内眦成形术、额肌瓣悬吊术及外眦开大术等多种术式联合矫治小睑裂综合征 2 1例 ,取得满意疗效 ,现将手术方法报告如下。1 资料和方法 :(1)对象 :收集本院小睑裂综合征患者2 1例 (42只眼 ) ,其中男性 15例 ,女性 6例 ;年龄 4～ 16岁 ,平均 8岁。 5例男性患者有 2代家族遗传病史。 2 1例均有典型的双上睑下垂、内眦赘皮、小睑裂及内眦间距增宽四联征 ,部分伴有鼻背低平。平均内眦间距、睑裂宽度及睑裂长度分别为 (39 94± 1 76 )、(2 92± 1 5 5 )及 (18 96± 1 5 4 )ｍｍ。全部病例滴用 1%阿托…     

分期手术治疗先天性小睑裂综合征

目的观察分期手术(内眦成形术、外眦成形术、异体筋膜悬吊术)治疗先天性小睑裂综合征的临床疗效.方法对31例62眼先天性小睑裂综合征患者进行分期手术治疗.比较术前、术后睑裂长度、宽度、内眦间距与上睑缘的位置.结果睑裂平均长度由术前19.5 mm增至术后28.1 mm,睑裂平均宽度由术前3.4 mm增至术后8.6mm,平均内眦间距由术前35.6 mr减至术后25.3 mm,上睑缘位置由术前位于瞳孔上、下缘间提高至角膜上缘附近.1例发生暴露性角膜炎.结论分期手术治疗先天性小睑裂综合征能使睑裂长度和宽度接近或达到正常,有效地改善了外观.     

双侧睑裂不对称手术方法的改良

本科自1992年以来,采用部分睑板切除术加重睑成形术的方法,治疗双侧睑裂不等宽患者16例,收到良好的美容效果,手术方法简便,现报告如下。1　资料和方法1.1　一般资料　男3例,女13例,年龄18～32a。右眼7例,左眼9例,均为先天性双睑裂不对称、一侧上睑稍下垂的患者。平视前方...     

Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit

BACKGROUND: The aim was to objectively assess surgical outcome in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHOD: Retrospective review of 14 consecutive patients with BPES. Mustardé double z plasty (at about age 4) and autogenous fascia lata Crawford brow suspension (9-12 months later) were used in all. One consultant performed all operations. Patient photographs were scanned and magnified for analysis. Preoperative and postoperative intercanthal distance, vertical palpebral aperture and cosmetic outcome were measured. Values were converted into ratios. RESULTS: Bilateral (mildly asymmetrical) ptosis and symmetrical epicanthic folds were found in all preoperatively. Seventy-one per cent had severe folds. Preoperative intercanthal distance ratio range was 1.26-1.60 (non-BPES=1.0). Median reduction post surgery was 26% (P=0.001, Wilcoxon's signed ranks test). Patients with largest preoperative ratio displayed greatest correction (P=0.029). Mustardé technique completely abolished all epicanthic folds and unmasked prominent caruncles in all. Fifty per cent had mild scarring postoperatively in the medial canthal region. Median change in marginal reflex distance ratio (right)=22.2% (P=0.012), left=18.2% (P=0.008), Wilcoxon's signed ranks tests. Postoperatively all had formed eyelid creases with improved upper lid position symmetry. CONCLUSIONS: This is the first known study objectively assessing surgical outcome in BPES. Mustardé double z plasty and Crawford autogenous fascia lata brow suspension are an effective surgical combination in the treatment of this syndrome, with overall cosmetic benefit.     

先天性小睑裂综合征分期手术的疗效及满意度

目的：通过对先天性小睑裂综合征分期手术的疗效及患者满意度的分析,为临床治疗先天性小睑裂综合征的手术方式的选择提供参考。

方法：回顾性分析在上海交通大学附属第九人民医院眼科进修学习时处置的先天性小睑裂综合征分期手术的患者23例46眼,其中患者6例12眼有家族遗传史,2例4眼斜视,1例2眼眼球震颤。平均在5±1.9岁行Ⅰ期手术,6±2.7岁行Ⅱ期手术,手术分为Ⅰ期“Y-V”成形术、Von-Ammon外眦成形术和Ⅱ期额肌瓣悬吊手术,术后随访观察12mo,评价与分析其疗效并行患者满意度评分。

结果：睑裂长度(PFL)从术前右眼17.83±3.1mm,左眼17.87±2.9mm延长至术后右眼23.59±1.7mm,左眼23.59±1.8mm; 睑裂高度(PFH)从术前右眼2.91±1.4mm,左眼2.91±1.2mm提高至术后右眼7.89±0.9mm,左眼7.89±0.7mm; 内眦赘皮的长度从术前18.7±2.1mm减少至术后7.8±1.8mm ; 内眦赘皮的宽度从术前3.9±0.8mm减少至术后1.3±0.8mm; 内眦间距(IICD)从术前37.70±3.3mm缩短至术后30.70±2.6mm; 角膜反射光点至上睑缘的距离(MRD1)从术前右眼-1.67±1.6mm,左眼-1.80±1.6mm均上升至术后右眼+3.35±0.7mm,左眼+3.35±0.6mm; IICD/PFL从术前2.1±0.2下降至术后1.3±0.4。满意度评分47±2.1(满分60)分,患者对手术疗效及术后美容表现出较高满意度。

结论：先天性小睑裂综合征患者通过分期手术即Ⅰ期“Y-V”成形术、Ammon外眦成形术和Ⅱ期额肌瓣悬吊手术,能取得满意的疗效。     

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B-scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.     

Clinical and Anatomical Substantiation of Levator Resection in the Complex Surgical Treatment of BPES

Objective: To describe the clinical and anatomical results of the complex one-stage surgical treatment of BPES by means of levator resection. Materials and Methods: 51 children (73 eyes) aged 3–16 years with BPES were operated on by the newly developed one-stage technique at the Pediatric Ophthalmology Department of the Filatov Institute of Eye Diseases and Tissue Therapy. The surgical technique included shortening of the internal canthal ligament, resection of the tarsus and levator muscle, and skin plasty. The new surgical technique is based on new data on the topography of the upper eyelid and anterior part of the orbit obtained by MRI—onward protrusion of the orbital septum with increased volume of the pre-aponeurotic fat pad; thickening of the suborbicularis fat layer; shortening and thickening of the mobile part of the upper eyelid; and slight expression and low position of the palpebral fold. Results: Elimination of ptosis and epicanthus was achieved in all cases (eye fissure widening of up to 7–11 mm, average 8.8 ± 1.04 mm, and lengthening of up to 21–30 mm, average 24.7 ± 2.87 mm). Increased levator function to 3–10 mm (average 5.6 ± 0.19 mm) was also achieved after surgery. Control MRI investigation confirmed the normalization of the topography of the eyelid and orbital structures. Conclusion: The newly developed surgical technique for BPES correction by means of levator resection permits one to obtain high cosmetic and functional results based on improvement of the topography of the upper eyelid and orbital structures.     

Michels syndrome: The first case report from India and review of literature

A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India.     

Nicotinamide suppresses bevacizumab-induced epithelial-mesenchymal transition of ARPE-19 cells by attenuating oxidative stress

AIM:To investigate the effects of nicotinamide(NAM)on bevacizumab(BEV)-induced epithelial-mesenchymal transition(EMT)of human retinal pigment epithelial cells(ARPE-19)and the underling mechanisms.METHODS:ARPE-19 cells were treated with BEV for 24,48,and 72 h,and the variation degrees of EMTrelated markers(fibronectin,α-SMA,vimentin,and ZO-1)were assessed by Western blotting to select the optimal treatment time point which exhibited the most obvious changes of EMT-related markers for the subsequent experiments.Furthermore,NAM was added to the medium,the m RNA and protein levels of the EMT-related markers were then measured.The accumulation of reactive oxygen species(ROS)and H₂O₂ and the total antioxidant capacity(TAC)of the cells were also measured to evaluate the level of oxidative stress.RESULTS:After being treated with BEV for 72 h,the protein expression levels of EMT-related markers in ARPE-19 cells showed significant changes.Meanwhile the levels of ROS and H₂O₂ were obviously increased,and the TAC of ARPE-19 cells was decreased.Totally 72 h was chosen to be the optimal treatment time point in subsequentexperiments.Furthermore,NAM inhibited BEV-induced EMT by downregulating fibronectin,α-SMA,and vimentin and upregulating ZO-1,decreased the accumulation of ROS and H₂O₂,and enhanced TAC in BEV-treated ARPE-19 cells.CONCLUSION:This study demonstrates that NAM suppressed BEV-induced EMT in ARPE-19 cells by attenuating oxidative stress.Hence,NAM may be a potential therapeutic agent for alleviating neovascular fibrosis of the ocular fundus after anti-vascular endothelial growth factor therapy.     

Terson综合征13例的临床疗效分析

目的：探讨Terson综合征患者的临床治疗效果。 方法：Terson综合征13例19眼,术前视力光感～0.02,病程1~15(平均7.7)mo。行玻璃体切割术,术中根据玻璃体视网膜情况,采用玻璃体腔内硅油填充2眼,采用气体填充1眼,余采用玻璃体切割灌注液填充。 结果：术中发现玻璃体出血集中在后极部占多数;视网膜前出血12眼（两眼基本对称）,出血在黄斑区4眼,多灶性出血3眼。首次术后19眼视力显著提高,无黄斑区视网膜前出血12眼视力提高到0.4～1.0(平均0.6);有黄斑区视网膜前出血4眼视力提高到0.02～0.4(平均0.3)。前者较后者术后视力显著提高 (P<0.05)。术后随访15眼,约3～26(平均17.6)mo。术后发生视网膜脱离2眼,再次行视网膜复位术。 结论：Terson综合征患者及时行玻璃体视网膜手术安全有效,无黄斑区视网膜前出血较有黄斑区视网膜前出血的患者视力恢复明显。