Visual function in Huntington's disease patients and presymptomatic gene carriers.

Disturbances of visual cognition, visuomotor performance, and visual memory have been described frequently in Huntington's disease (HD). Early stage visual abnormalities could contribute to these deficits. We evaluated visual processing in 20 control subjects who were non-gene carriers at risk for HD, nine presymptomatic gene-positive subjects, and eight subjects with a recent diagnosis of Huntington's disease. Visual perceptual tests of contrast sensitivity and motion discrimination were used to probe early stage visual processing. Extraocular movements were evaluated in a neurologic examination, and the Digit Symbol test was used to test visual motor performance. Contrast sensitivity did not differ among the three groups. Motion discrimination was impaired in HD subjects but not in the presymptomatic gene carriers when compared to gene noncarriers. Among gene carriers, impaired motion discrimination performance was associated with poorer Digit Symbol performance and extraocular abnormalities. These findings suggest that the early stages of HD are associated with disturbances of motion perception as well as disruptions of visual motor and ocular motor performance.     

A ring electrode to record extraocular muscle activities during skull base surgery

Summary A ring-shaped electrode was developed and used in 20 patients to record evoked electromyographic responses directly from the extraocular muscles during skull base surgery. Intra-operative monitoring with this electrode helps the surgeon to localize the nerves that innervate the extraocular muscles precisely and to refrain from disturbing important neural structures during operations. Such monitoring also provides some insight into the pathophysiology of the dysfunction of these nerves resulting from skull base lesions.     

眼外肌薄层断面与MRI对照研究

目的 提供首例中国女性可视化人体有关眼外肌的形态学信息，为眼外肌病的影像学识别与诊断提供薄层解剖学依据。方法 应用首例中国女性数字化可视人体数据集，提取眶区的横断面图像，与相应的MRI轴位图像对照观察。结果在人体横断面标本与相应的MRI轴位图像上，清楚显示眼外肌的形态及毗邻关系。结论采用可视人技术能为临床提供眶内精细结构断面数据，断面图像与MRI图像之间有良好的对应关系。     

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3) gene has a primary function in nervous system development and axon generation and maintenance, due to its neuron‐specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene is responsible of a rare disorder clinically characterized by congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual disability and a wide range of neurological and endocrine abnormalities. Other mutations have been described spanning the entire gene and genotype–phenotype correlations have been proposed. We report on a 3‐year‐old boy in whom clinical exome sequencing allowed to identify a de novo TUBB3 E410K mutation as the molecular cause underlying a complex phenotype characterized by a severe bilateral palpebral ptosis refractory to eye surgery, psychomotor delay, absent speech, hypogonadism, celiac disease, and cyclic vomiting. Brain MRI revealed thinning of the corpus callosum with no evidence of malformation cortical dysplasia. We reviewed available records of patients with TUBB3 E410K mutation and compared their phenotype with the clinical outcome of patients with other mutations in TUBB3 gene. The present study confirms that TUBB3 E410K results in a clinically recognizable phenotype, unassociated to the distinct cortical dysplasia caused by other mutations in the same gene. Early molecular characterization of TUBB3 E410K syndrome is critical for targeted genetic counseling and prompt prospective care in term of neurological, ophthalmological, endocrine, and gastrointestinal follow‐up.     

先天性广泛眼外肌纤维化综合征一家系临床表型及基因连锁定位分析

目的 分析一个先天性广泛眼外肌纤维化综合征(CFEOM)家系的临床表型，并通过连锁分析方法来定位该家系的致病基因。方法 对家系中的所有患者进行临床检查。根据目前已知的两种常染色体显性遗传类型的CFEOM的遗传学位点12p11．2-q12(FEOM1)和16q24(FEOM3)选取微卫星进行连锁分析研究。结果 家系中4名患者具有典型的CFEOM表现。连锁分析显示，微卫星D12S59、D12S1048、D12S1648在所有患者中与疾病呈现共分离现象，其中D12S1048最大Lod值为1．91，而在微卫星D12S61和D12S1090处出现重组，表明该家系的致病基因位于这两个微卫星之间。结论此家系属常染色体显性遗传的CFEOM 1型，其致病基因定位于12p11．2-q12的D12S61和D12S1090之间。     

多克隆CNTF抗体对肉毒毒素引起肌麻痹超微结构的影响

目的研究多克隆睫状神经营养因子(c iliary neurotroph ic factor,CNTF)抗体对肉毒毒素(botu linum toxin,BTX)引起的肌麻痹的作用。方法10只新西兰兔,分别在双侧眼外肌肌腹和面部皮下注射A型肉毒毒素(botu linum toxin A,BTXA),注射后第4天在右侧眼外肌和面部皮下注射多克隆CNTF抗体,左侧相同部位注射等量生理盐水作为对照,在注射后14 d,行电镜观察双侧眼外肌和面肌的肌细胞、运动终板及神经纤维的改变。结果注射BTXA后14 d眼外肌和面肌的肌纤维均明显萎缩,线粒体肿胀,肌纤维结构无明显破坏;神经髓鞘板层松散,可见髓样小体,运动终板处可见清亮的兴奋性神经递质小泡增多密集。右侧注射CNTF组可见肌细胞核内移,胞质内线粒体肿胀聚集,肌细胞呈空泡样改变,局部肌丝断裂溶解,变性的肌细胞坏死崩解成细胞碎片;运动终板处也可见大量清亮小泡聚集,神经髓鞘增多。结论注射多克隆CNTF抗体后,与单纯注射BTXA者比较,局部肌细胞结构出现不可逆性破坏,延长了肌肉麻痹恢复时间,提示多克隆CNTF抗体可能延长BTX的肌麻痹作用。     

Congenital dysplasia involving both medial and inferior recti: clinical features and surgical outcomes

AIM: To investigate the clinical features and surgical outcomes of congenital dysplasia involving both inferior recti (IR) and medial recti (MR) muscles. METHODS: A retrospective review was conducted including cases of simultaneous congenital dysplasia of IR and MR that were diagnosed and surgically treated at the Zhongshan Ophthalmic Center, Sun Yat-sen University, China, from July 2009 to November 2019. Ocular motility, ocular alignment at distance (6 m) and near (33 cm) by prism alternating cover test and stereoacuity were assessed in all patients before and after surgery. RESULTS: A total of five patients (four males and one female; three with right eye and two with left eye congenital dysplasia) were included in this review. The patients ranged in age from 10 to 42y (21±13.4y). The main clinical findings were hypertropia and exotropia of the affected eye, along with motility limitations in adduction and depression. Lateral rectus (LR) recession/transposition combined with IR resection was performed in one case. Two scheduled surgeries were performed in four cases, with one involving superior rectus recession and IR resection and the others LR recession and MR resection. Mean±SD pre-surgical exotropia of 51.0±31.11 prism diopter (PD) and hypertropia of 29.20±7.12 PD in the primary position were decreased to 3.6±12.90 and 3.2±10.09 PD, respectively, at two years after surgery, with a success rate of 60% and an under-correction rate of 40%. CONCLUSION: The main clinical features associated with simultaneous MR/IR congenital dysplasia are hypertropia and exotropia of the affected eye along with motility limitations in adduction and depression. Scheduled two-stage surgeries achieved a success rate of 60%.     

Dermoscopic features distinctive for extraocular sebaceous carcinoma

We examined dermoscopic features of three cases of extraocular sebaceous carcinoma and reviewed the literatures. The yellowish structures, polymorphous vessels and ulceration were common findings in our cases and all cases of the previous reports. The appearance of whitish‐pink areas has not been described previously. Our results suggested that the combination of four dermoscopic features, whitish‐pink areas, yellowish structures, polymorphous vessels and ulceration might be distinctive in extraocular sebaceous carcinoma.     

成人麻痹性斜视病因分析及手术治疗

目的：观察和探讨成人麻痹性斜视的类型和手术矫正效果。
　　方法：回顾性分析了我院2010－06／2013－06成人麻痹性斜视临床病例46例,将所有病例分为水平斜视组和垂直斜视组,其中水平斜视为主者26例,包括外直肌麻痹16例,内直肌麻痹10例;垂直斜视为主者20例,包括上斜肌麻痹7例,上直肌麻痹8例,下直肌麻痹2例,双上转肌麻痹3例。发病原因：先天性者9例,车祸等外伤所致19例,鼻部或颅脑手术史8例,原因不明者10例。手术方式包括直肌后徙术、直肌缩短术、直肌部分移位术或直肌联结术、下斜肌部分切除术、下斜肌后徙转位术等。采用SPSS10．0统计软件对两组的疗效进行卡方检验,同时对水平斜视组的两种术式改善麻痹眼运动情况进行t检验。
　　结果：末次随访时水平斜视组治愈、好转和无效者分别为20例（77％）,5例（19％）,1例（4％）;垂直斜视组分别为15例（75％）,3例（15％）和2例（10％）,两组间统计无显著性差异（P＞0．05）;麻痹眼的眼球运动得到改善。水平斜视中所用的两种术式,均能改善麻痹眼的眼球运动,分别为3．76±0．91,3．72±0．84mm,统计学上无显著性差异（P＝0．93）。
　　结论：成人麻痹性斜视病情复杂,根据不同麻痹肌及麻痹程度不同,采用不同的手术方式,术后可获得眼位的美容正位,改善代偿头位和主要注视野的复视。     

剪切波弹性成像技术在甲状腺相关性眼病眼外肌病变中的应用

目的： 运用剪切波弹性成像(SWE)评估甲状腺相关性眼病眼外肌病变(Thyroid associated ophthalmopathy,TAO)中四条眼外肌厚径及平均杨氏模量值(Emean)的变化,探讨其对TAO的诊断价值。 方法： 随机收集在兰大二院内分泌科住院的TAO患者60例,根据2008年欧洲研究学会TAO分级标准将其分为两个亚组：A组(TAO水肿期)38例和B组(TAO纤维化期)22例,另选取年龄、性别相匹配的健康志愿者50例为对照组。采用高频超声测量眼外肌厚径,SWE测量眼外肌平均杨氏模量值(Emean),以甲状腺相关性眼病分级评估结果为标准绘制接受者操作特征(ROC)曲线,确定诊断TAO的截点值。 结果： TAO组患者眼外肌厚径及Emean值均大于对照组(P<0.05)。对照组、A组、B组四条眼外肌Emean值有逐渐增高的趋势(P<0.05),TAO亚组(A组、B组)厚径无显著性差异(P＞0.05)。ROC曲线显示,上直肌、下直肌、外直肌、内直肌Emean值诊断TAO的截点分别为9.85kPa、9.65kPa、9.85kPa、9.65kPa,曲线下面积分别为0.937、0.922、0.94、0.94;敏感性分别为86%、78%、82%、80%,特异性分别为90%、95%、95%、98.3%。 结论： SWE可通过定量评估眼外肌弹性为临床诊断甲状腺相关性眼病眼外肌病变提供参考。