先天性睑裂狭小综合征一家系

先天性睑裂狭小综合征亦称先天性小睑裂，是一种常染色体显性遗传病。在我院就诊患者中发现一家系，报告如下。     

小儿先天性睑裂狭小综合征的手术治疗观察

１９９５～１９９９年间,我科对１０例先天性睑裂狭小综合征患儿进行了手术治疗,取得满意效果,现报道如下。１资料与方法１．１ 一般资料 本组１０例２０眼,男７例,女３例,年龄１岁９个月～９岁,平均３．９岁。临床表现：１０例均为四联征,其中３例伴有眼部其他先天异常,１例伴先天性眼球震颤,１例伴先天性内斜视及先天性眼球震颤;另１例伴先天性内斜视、先天性小眼球、双下睑内翻。睑裂长度：１６～２１ｍｍ,平均１８．６７ｍｍ;睑裂宽度：１～４ｍｍ,平均２．７５ｍｍ。上睑下垂：６例遮盖角膜２／３,４例遮盖全部角膜。提…     

先天性睑裂狭小综合征与FOXL2基因突变研究进展

先天性睑裂狭小综合征(blepharophimosis-ptosis-epicanthus inversus syndrome,BPES)是一种罕见的常染色显性遗传病。BPES分为两型,研究表明FOXL2基因是BPES的致病基因,在BPESⅠ型和Ⅱ型患者中均存在FOXL2基因突变。中外许多研究者对BPES家系或者散发病例的FOXL2基因突变进行了研究。对于近5a关于BPES及FOXL2基因突变的研究情况在此作一综述。     

一次手术矫正睑裂狭小综合征的临床观察

目的 探讨睑裂狭小综合征简单易行的一次手术治疗方法。方法 对睑裂狭小综合征设计并临床应用内外眦成形术、上睑下垂矫正术一次完成的治疗方法,施行手术22例。术后平均观察11.6月。结果 治愈17例,显效2例,改善3例,无复发,无并发症出现,手术效果良好,有效率达100%。结论 一次完成矫正睑裂狭小综合征是一种安全可靠的方法。     

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,     

睑裂狭小综合征一家系病例报告

睑裂狭小综合征（blepharophimosis—ptosis—epican—thus inversus syndrome,BPES）是一种罕见的常染色体显性遗传疾病,亦称先天性小睑裂。我院眼科于2013年8月收治1例,对其进行了家系调查,报告如下。     

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.     

先天性睑裂狭小综合征的遗传学研究进展

先天性睑裂狭小综合征，即睑裂狭小-上睑下垂-逆向内眦赘皮综合征（Blepharophimosis-ptosis-epicanthus inversus syndrome，BPES）为少见的常染色体显性遗传疾病，偶有散发病例。临床特点为睑裂水平径和垂直径明显变小，同时伴有上睑下垂和逆向内眦赘皮等。BPES可分为两型，Ⅰ型女性患者因卵巢功能早衰（premature ovarian failure，POF）而不育，但男性生育功能正常。Ⅱ型男女患者因只累及眼睑故均可生育。     

睑裂狭小综合征一家系的FOXL2基因突变研究

目的确定一个常染色体显性遗传的睑裂狭小综合征（BPES）家系的致病基因及其突变位点和类型。方法应用聚合酶链反应和直接测序技术,对来自同一家系的4例BPES患者及家系中6例正常人和50例正常对照者的外周血DNA进行分子遗传学分析,筛查FOXL2基因的外显子序列。结果来自同一家系的4例BPES患者均发现有FOXL2基因892C〉T的改变,为无义突变,而家系中6例正常人及50例正常对照者的FOXL2基因中均未发现突变。结论FOXL2基因的一种已知突变可能是该BPES家系的重要致病因素。     

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．     

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Purpose: To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated. Methods: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus inversus syndrome presenting to a tertiary referral eyelid, lacrimal and orbital clinic. Results: Amblyopia was present in 39% of patients. Patients with coexistent strabismus had a 64% incidence of amblyopia compared to 24% for those without strabismus. Hypermetropia was present in 43% of patients and 7% were myopic. Significant astigmatism was found in 40% of patients, but these factors did not increase the risk of amblyopia. Patients with severe ptosis had lower rates of amblyopia than those with moderate ptosis but had their ptosis corrected at a median age of 2 years compared to 5 years for those with moderate ptosis. There was an 18% incidence of nasolacrimal drainage problems. A good to excellent cosmetic outcome was achieved in 86% of patients. A positive family history was noted in 75% of patients, usually with paternal inheritance. Conclusions: Patients with blepharophimosis have a high rate of amblyopia. Co‐existent strabismus doubles the risk of amblyopia. Ptosis alone causes mild to moderate amblyopia only. Patients with severe ptosis should have their ptosis corrected before 3 years of age, and all other patients should undergo surgery before 5 years of age.     

Secondary glaucoma after congenital cataract surgery

Purpose: Glaucoma has been recognized as an infrequent but serious complication following surgery for congenital cataract in childhood. We conducted a retrospective review of patients in whom glaucoma had developed after surgery for congenital cataract. Methods: We reviewed the records of 87 eyes of 53 patients on whom cataract surgery had been performed between February 1982 and March 1995 at Ondokuz Mayis University Hospital, Samsun. Results: The average postoperative follow-up is 4.5 years (range 1 to 12 years). We identified open angle glaucoma (OAG) in 17 eyes, chronic angle closure glaucoma (ACG) in six eyes, and acute angle closure glaucoma (AACG) in two eyes. The average time between cataract surgery and the diagnosis of glaucoma was 6.08 years (range one week to 10 years). The mean time to diagnosis of glaucoma was 4.7 years (range 4 months to 10 years) for OAG, 4.3 years (range 1 to 8 years) for ACG and, for AACG, 7 days and 10 months following surgery. Medication alone was successful in intraocular pressure control in 17 of 25 eyes (<21 mmHg), and additional surgical procedures resulted in intraocular pressure control in eight eyes in which they were performed. Conclusion: Patients undergoing cataract surgery early in life should be routinely examined for possible postoperative glaucoma. This revised version was published online in July 2006 with corrections to the Cover Date.     

额肌瓣悬吊术治疗重度先天性上睑下垂临床观察

目的:探讨额肌瓣悬吊术治疗重度先天性上睑下垂的临床效果。方法:采用额肌瓣悬吊术治疗重度先天性上睑下垂患者22例27眼。并对术后效果进行随访观察。结果:本组22例27眼,随访3～36mo,除1眼矫正不足外,余均取得良好效果。结论:额肌瓣悬吊术适用于治疗重度先天性上睑下垂,效果确切。     

先天性白内障的手术治疗及其进展

先天性白内障是一种常见眼病,该病严重影响儿童视觉发育和视力。手术是其主要治疗方法。由于儿童的术前评估、术中操作和术后管理都较成年人困难,使得手术效果往往不甚理想。因此,我们对近年来先天性白内障手术治疗的相关研究做一综述,以探讨该领域存在的问题和进一步发展的方向。     

手术治疗先天性视网膜劈裂症眼后段并发症

目的评价玻璃体视网膜手术治疗先天性视网膜劈裂症眼后段并发症的效果。方法回顾性分析伴有眼后段并发症的先天性视网膜劈裂症7例（10眼）玻璃体视网膜手术的效果。其中玻璃体积血5眼，玻璃体积血合并牵引性视网膜脱离1眼，原发性（孔源性）视网膜脱离2眼，周边劈裂腔进展累及黄斑2眼。所有病例均有周边视网膜劈裂及黄斑中心凹劈裂。1眼孔源性视网膜脱离行巩膜扣带术，其余9眼行玻璃体手术。结果随访12～51月，平均38月，玻璃体积血者术后屈光间质透明，视网膜脱离者术后视网膜复位良好，所有病例术后视力较术前均有不同程度提高，而且视网膜劈裂无明显进展。无严重并发症出现。结论玻璃体视网膜手术用于治疗先天性视网膜劈裂症眼后段并发症，不仅可以清除浑浊的屈光间质，而且可以解除玻璃体牵引，阻止劈裂腔进一步发展，有助于改善和稳定视功能。     

先天性白内障手术的相关研究进展

先天性白内障是一种常见的儿童致盲性眼病.手术治疗是先天性白内障治疗的主要方式.由于其术前评估、术中操作、术后管理都较老年性白内障困难而且手术效果欠佳.因此,日益引起白内障专科医师及儿童眼科医师的高度关注.我们对近年来先天性白内障手术治疗的相关研究进展做一回顾,以探索该领域存在的问题和进一步的发展方向.     

Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis

AIM: To conduct a systematic review and Meta-analysis of the published literature to evaluate the pooled prevalence rate of amblyopia in patients with congenital ptosis. METHODS: We searched the PubMed, Embase, the Cochrane Central Register of Controlled Trials, China National Knowledge Infrastructure, Wanfang Data, and Chongqing VIP databases for studies reporting the prevalence of amblyopia in patients with congenital ptosis. The reference lists of relevant studies were scanned. Heterogeneity of effect sizes across studies was tested. We calculated prevalence ratios to compare prevalence estimates for different causes of amblyopia in patients with congenital ptosis, as well as for different geographical regions, year of publication and sample size in subgroup analyses. A systematic review and Meta-analysis were performed. RESULTS: We identified 29 eligible surveys with a total population of 2436. Prevalence rates of amblyopia ranged from 13.8% to 69%. We noted substantial heterogeneity in prevalence estimates for amblyopia in congenital ptosis (Cochran’s χ2 significant at P<0.0001; I2=90%). The pooled prevalence using random-effects models of 29 studies was 32.8% (95%CI: 27.3%-38.4%) in the overall population. Compared to the overall pooled prevalence, amblyopia prevalence was higher in studies in which only subjects with blepharophimosis syndrome were included. CONCLUSION: We confirm that nearly one-third of congenital ptosis patients are suffering from or at risk for amblyopia. Patients with blepharophimosis syndrome are more likely to develop amblyopia. The identification and management of amblyopia should be integral to the treatment of congenital ptosis.