Ocular myasthenia gravis

Myasthenia gravis (MG) is probably the best studied autoimmune disease caused by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction, subsequently leading to abnormal fatigability and weakness of skeletal muscle. Extraocular muscle weakness with droopy eyelids and double vision is present in about 90% of MG patients, being the initial complaint in about 50%. In approximately 20% of the patients the disease will always be confined to the extraocular muscles. The single most important diagnostic test is the detection of serum antibodies against AChR which is positive in 90% of patients with generalized MG, but only in 65% with purely ocular MG. Electromyographic studies and the Tensilon test are of diagnostic value in clear-cut cases, but may be equivocal in purely ocular myasthenia, especially the latter not rarely producing false-positive results. Treatment response to corticosteroids and anti-cholinesterase agents is satisfactory in many patients with ocular MG, however other immunosuppressive drugs may also be needed. Pathogenetically relevant steps of the underlying autoimmune process have been elucidated during the last few years; nevertheless a number of questions remain open, especially what starts off the autoimmune process, and why are eye muscles so frequently involved in MG?     

乙酰胆碱受体抗体量与眼型重症肌无力病情关系的实验观察

目的　观察血清乙酰胆碱受体抗体 (Ach Rab)含量与眼型重症肌无力患者病情程度和发展为全身型重症肌无力的关系。方法　 2 0例眼型重症肌无力患者按受累程度分为轻、中、重三组 ,采用固相酶免疫吸附法测定血清 Ach Rab含量 (P/ N值 )。结果　对照组和病情轻、中、重三组血清 P/ N值分别为 :0 .6 7± 0 .45、0 .78± 0 .30、1.16± 0 .18和 1.5 1± 0 .13。轻度组与对照组比较无显著差异 (P >0 .0 5 ) ,中度组与轻度组比较差异显著 (P <0 .0 5 ) ,重度组与中度组比较有非常显著差异 (P <0 .0 1)。3例 P/ N值明显高患者 (中度组 1例、重度组 2例 ) 2年后发展成全身型。结论　 P/ N值可反映患者病情程度和提供眼型重症肌无力发展为全身型重症肌无力的预兆信息。     

儿童眼肌型重症肌无力发生眼肌麻痹的相关因素研究

目的:探讨儿童眼肌型重症肌无力(OMG)患儿发生眼肌麻痹的相关因素。方法:回顾性分析2011-11/2020-05期间就诊于我院的203例儿童OMG患儿,将其分为眼肌麻痹组97例和非眼肌麻痹组106例,对两组患儿的临床资料进行单因素统计分析,对有统计学差异的指标进一步行多因素回归分析。结果:纳入的203例儿童OMG患儿发生眼肌麻痹者97例(47.8%),69例(71.1%)表现为斜视,其次为歪头视物(18例,18.6%)。97例患儿中单眼79例(81.4%),单条眼外肌受累53例(54.6%),其中内直肌19例(35.8%)。眼肌麻痹组和非眼肌麻痹组患儿年龄,血清免疫球蛋白M(IgM),血清游离三碘甲状腺原氨酸(FT3),血清甲状腺球蛋白(TG),采用激素联合治疗(72.2%vs 38.7%)均有统计学意义(P<0.05)。血清FT3水平(OR=2.006,95%CI:1.233~3.263)和采用激素联合治疗(OR=4.328,95%CI:1.936~9.677)是影响儿童OMG患儿发生眼肌麻痹的相关因素。结论:儿童OMG患儿发生眼肌麻痹较常见,单眼多发,内直肌最易受累,较少出现复视。血清FT3可作为评估儿童OMG患儿发生眼肌麻痹的重要免疫指标。     

眼肌型重症肌无力的临床和电生理研究

目的探讨眼肌型重症肌无力(ocular myastheniagravis,OMG)的临床表现、辅助检查及电生理特征,为临床诊断提供帮助。方法对63例OMG患者的临床资料、辅助检查和电生理特征进行回顾性研究。结果OMG主要表现为单侧(占31.7%)或双侧(占68.3%)上睑下垂,眼球垂直(占19.0%)与水平(占22.2%)运动障碍,眼球固定(占1.6%)。OMG重复神经电刺激(repetitive nerve stimulation,RNS)异常率为54.0%,单纤维肌电图(single fiber electromyography,SFEMG)异常率为58.7%。OMG乙酰胆碱受体抗体(AchRAb)滴度增高占28.6%,并发甲亢为14.3%,心肌酶学异常为17.5%,胸腺瘤阳性率为3.2%,胸腺增生为41.3%。结论OMG多表现为眼睑下垂和眼球活动障碍。辅助检查中,AchRAb阳性率低,胸腺增生常见,胸腺瘤少见,以电生理检查阳性率最高,有助于OMG的诊断。     

儿童眼肌型重症肌无力免疫相关发病机制的初步探讨

目的:通过分析儿童眼肌型重症肌无力患儿外周血中免疫球蛋白、补体及T细胞亚群的含量,初步探讨体液免疫和细胞免疫在儿童眼肌型重症肌无力发病中的作用。方法:采用免疫比浊法检测37例儿童眼肌型重症肌无力患儿及健康对照儿童外周血中IgG,IgA,IgM,补体C3及C4的含量,流式细胞术检测12例儿童眼肌型重症肌无力患儿及健康对照儿童外周血中CD3+T淋巴细胞、CD4+T淋巴细胞及CD8+T淋巴细胞的含量,独立样本t检验进行数据统计分析。结果:儿童眼肌型重症肌无力患儿外周血IgA,IgM及CD3+T淋巴细胞、CD8+T淋巴细胞值与健康儿童比较,均无显著性差异(P>0.05),IgG,补体C3及C4的含量低于健康儿童(P<0.05)。CD4+T淋巴细胞值高于对照儿童(P<0.05)。结论:补体C3,C4及CD4+T淋巴细胞在儿童眼肌型重症肌无力的发病机制中起着重要作用。     

不典型眼肌型重症肌无力临床表现

目的 研究不典型眼肌型重症肌无力(OMC)患者的临床表现.方法 回顾性分析了自2003年6月-2009年12月到我院就诊的36例不典型眼肌型重症肌无力患者的临床特点.结果 年龄10-68岁,上睑下垂9例,内直肌麻痹8例,外直肌麻痹6例,上斜肌麻痹2例,4例有复视,2例仅有眼睛不适和视物模糊感,2例辐辏麻痹,1例眼轮匝肌...     

Fatigable ptosis and pseudoretraction caused by myasthenia gravis

The case is presented of a 59-year-old woman with myasthenia gravis. Fatigable ptosis and pseudoretraction caused by the myasthenia gravis are illustrated in a series of clinical photographs.     

Orbital mantle cell lymphoma presenting as myasthenia gravis

A 69-year-old man, previously treated with pyridostigmine for myasthenia gravis (manifesting as ptosis and diplopia) was evaluated for several concomitant bilateral anterior orbital masses. Imaging revealed 3 discrete, solid masses within and around the orbits. An incisional biopsy demonstrated atypical lymphocytes positive for CD20 and Cyclin-D1, consistent with mantle cell lymphoma. The patient received induction chemotherapy with a rituximab-based regimen. He experienced resolution of his diplopia and ptosis after one cycle of chemotherapy and achieved complete remission of the orbital masses and myasthenia symptoms after 6 cycles. Myasthenia gravis is most commonly associated with thymoma, but may also be observed with other malignancies. Recognition that orbital lymphoma may coexist with myasthenia gravis will help in expediting the diagnosis of future cases and in guiding treatment decisions.     

眼肌型重症肌无力免疫治疗研究

应用拟胆碱药、皮质类固醇、抗肿瘤等及联合用药随机分组治疗眼肌型重症肌无力４３例，治愈３５例（８１．４％）。其中联合用药组治疗１３例，治愈１２例（９２．３％），提示联合用药治疗眼肌型重症肌无力治愈率高，减少了用药量和药物并发症，复发率低，应作为本病的首选治疗方法。     

Rapid Response of Myasthenic Ocular Signs to IvIg Treatment

Ocular symptoms of patients with myasthenia gravis respond to anticholinesterases favorably but usually incompletely. Here, we report 7 myasthenic patients whose ocular signs rapidly responded to intravenous immunoglobulin (IvIg) therapy. We propose that the IvIg should be considered in myasthenic patients whose ocular findings do not respond to conventional therapies. Future studies may disclose whether all patients with ocular involvement or only a subset of patients considerably respond to the IvIg.     

眼肌型重症肌无力86例临床分析

目的 分析眼肌型重症肌无力（OMG）的临床特点.设计回顾性病例系列.研究对象2003年10月至2009年10月在深圳市眼科医院就诊的86例OMG患者.方法 将OMG依患者发病年龄分为儿童型、早发型和迟发型三型,比较三型OMG间出现上睑下垂、眼外肌功能障碍、眼外肌功能障碍合并眼球突出的出现率以及新斯的明试验、疲劳试验、胸腺CT和甲状腺功能异常的异常率.主要指标上睑下垂、眼外肌功能障碍、眼球突出、新斯的明试验、疲劳试验、胸腺CT和甲状腺功能异常的异常率.结果 91.9%的OMG表现为上睑下垂,其中63%为单眼、37%为双眼,儿童型、早发型与迟发型OMG上睑下垂的出现率无显著性差异（P〉0.05） 66.3%的OMG眼外肌功能障碍,其中儿童型OMG眼外肌功能障碍的出现率（27.3%）比早发型（71.8%）和迟发型（92.0%）OMG明显低（P=0.004） 17.4%的OMG合并Graves病和甲状腺相关眼病（TAO） 三型OMG之间新斯的明试验、疲劳试验和甲状腺功能异常的异常率无显著性差异（P均〉0.05）.早发型OMG较少（13.0%）出现胸腺异常（P=0.03）.结论 上睑下垂和眼外肌功能障碍是眼肌型重症肌无力的常见临床表现,少数眼肌型重症肌无力可合并Graves病和甲状腺相关眼病.     

Comparison of clinical manifestations between patients with ocular myasthenia gravis and generalized myasthenia gravis

Purpose

To compare the clinical manifestations between patients with ocular myasthenia gravis and those with generalized myasthenia gravis (MG).

Methods

The medical records of 71 patients diagnosed with MG between January 1995 and December 2007 were reviewed. Demographics, sensitivities of diagnostic methods, the presence of systemic autoimmune diseases, ophthalmic complications caused by MG, and treatments were evaluated and compared.

Results

Fourteen patients (20%) were diagnosed with ocular MG and 57 patients (80%) with generalized MG. Sensitivities of anti-acetylcholine receptor antibody and repetitive nerve stimulation tests were significantly higher in the generalized MG group (84%, 89%) compared to those in the ocular MG group (50%, 54%) (p = 0.011, p = 0.008). The sensitivity of the neostigmine test was the highest in both groups (98% of generalized MG, 79% of ocular MG), and the difference between the two groups was borderline significant (p = 0.058). The most common symptoms were ptosis and diplopia, and both groups presented with pain, blurred vision, and tearing. Systemic autoimmune disease was more prominent in the generalized MG group (21%) than in the ocular MG group (14%), and steroid therapy was used more frequently in the generalized MG group (82%) than in the ocular MG group (57%). Ophthalmic complications associated with long-term steroid treatment were more profound in the generalized MG (30%) compared to those of the ocular MG (21%).

Conclusions

The generalized MG group was associated with higher sensitivities to diagnostic tests, more systemic steroid use, higher ophthalmic complications caused by systemic autoimmune disease, and long-term steroid treatment compared to those of the ocular MG group.     

A Puzzling Ocular Motility Disorder: Apparent Up-Gaze Fatigability in a Patient With Oculomotor Nerve Compression

We report the case of a woman who developed right third nerve dysfunction with synkinesis and ocular neuromyotonia secondary to a compressive arterial aneurysm. Surprisingly, our examination showed a downward drift of the right eye in sustained up-gaze resulting in transient hypotropia, suggesting either fatigability of the superior rectus or contraction of the inferior rectus. We believe this ocular motility pattern is secondary to a co-contraction of the inferior rectus in up-gaze caused by synkinesis (explaining the downward drift), followed by failure of the inferior rectus to relax upon return to primary position caused by ocular neuromyotonia (explaining the hypotropia).     

成人重症肌无力眼肌型的临床特征

目的：:分析成人重症肌无力眼肌型（OMG）患者的临床特征。方法：:回顾性系列病例研究。收集2016年6月至2019年10月暨南大学附属第一医院眼科收治的40例成人OMG患者的病例资料,并对病程、性别比例、眼部表现、复视特征、眼外肌麻痹情况和辅助检查结果等进行分析。结果：:40例成人OMG患者中男女比例为1∶1。病程中位...     

Ptosis Surgery in Patients with Myasthenia Gravis: A Useful Adjunct to Medical Therapy

Introduction: Medical management can have limitations in improving ptosis in patients with myasthenia gravis (MG). We present our experience of ptosis surgery in MG. Materials and Methods: Clinical records of all patients with MG undergoing ptosis surgery from September 2007 to November 2013 in a single center were retrospectively reviewed. Change in upper marginal reflex distance (uMRD) was the main outcome measure. Results: Sixteen external levator advancement (ELA) procedures were performed on 11 MG patients. Fourteen of 16 procedures had pre- and postoperative uMRD documented. Thirteen of 14 procedures had improved lid height; mean increase in uMRD was 2.4 mm (P=0.0005651). Two patients required secondary lid elevation. Postoperative complications included more noticeable diplopia (n=1) and exposure keratopathy (n=1). Conclusion: Ptosis surgery is a useful adjunct to medical therapy to improve lid height in MG patients with ptosis. Risks of diplopia and exposure keratopathy should be discussed with the patient pre-operatively.     

神经眼科概念和新进展

神经眼科学涵盖所有原发性或继发性神经系统损害而临床表现为眼部症状的疾病。该领域近年来研究进展迅速，但很多临床问题尚待解决。本文仅重点概述几个常见的临床疾病研究进展。特发性脱髓鞘性视神经炎与多发性硬化关系密切，预防从前者向后者的转化非常关键。目前尚无大规模临床试验证明有效的治疗缺血性视神经病的方法。在更多的DNA点突变被发现与Leber遗传性视神经病（LHON）相关同时，成功的实验性基因治疗为未来临床治疗LHON提供了可能。特发性颅内高压和其视神经损害的治疗强调个体化。早期免疫治疗对于减少重症肌无力从眼肌型向全身型转化的作用目前仍在探讨中。     

冰试验诊断重症肌无力上睑下垂的价值

目的 观察冰试验在重症肌无力(MG)上睑下垂诊断中的价值。 方法 对32例MG上睑下垂患者和33例非MG上睑下垂患者进行冰试验和休息试验，MG上睑下垂患者另行新斯的 明实验。所有接受检查者均在同一天交替进行冰试验和休息试验2次，MG患者在接受冰试验和休息实验后行新斯的明实验。由两名不知道其临床诊断的观察者在试验前后用精确度为0. 5 mm的20 mm钢尺测量上下睑缘中点之间的宽度，以同一受检者两次冰试验或休息试验前后睑裂宽度之差的平均值为上睑下垂改善程度。 结果 冰试验和休息试验均能改善部分MG上睑下垂，但对非MG上睑下垂无改善，两者的特异度均为100％。冰试验比休息 试验能更大程度的改善MG上睑下垂,具有更高的灵敏度(78%)。 对于完全性上睑下垂，冰试验亦能有效的改善其睑裂宽度。与新斯的明试验相比，冰试验敏感性略低，但冰试验检查时间短，无需注射，避免了注射带来的不适，而且无任何毒副作用。 结论 冰试验是诊断MG上睑下垂的一种简单、安全且灵敏度和特异度较好的检查手段，有较好的临床应用价值。  （中华眼底病杂志，2006，22：382-384）