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Clinical spectrum and its association with recovery patterns in patients with acquired isolated ocular motor nerve palsies - an observational study. 后天性孤立性眼运动神经麻痹患者的临床表现及其与康复模式的关系--一项观察性研究。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-09-01 Epub Date: 2024-07-08 DOI: 10.1080/09273972.2024.2363396
Disha Agarwal, Nirupama Kasturi, Subashini Kaliaperumal

Purpose: To study the clinical spectrum and recovery patterns in patients of acquired isolated ocular motor nerve palsies (OMNPs). Methods: Patients above 5 years of age with various etiologies of OMNPs were included. Demographic and ocular details were recorded, and a squint assessment was performed. Recovery patterns at 3 and 6 months were noted. Results: OMNP was more common in adults, in the order VI > III > IV nerve. Ischemic cause (35%) was followed by idiopathic (26.3%). III nerve palsies were all unilateral, of which all ischemic palsies were pupil-sparing. By 6 months, >50 patients showing complete recovery had ischemic and idiopathic palsies. Smaller baseline deviation correlated with better recovery. Conclusion: Acquired isolated OMNPs are mostly ischemia-related, with >80% of cases fully recovering by 6 months. VI nerve palsy of ischemic or idiopathic etiology and small baseline deviation were associated with self-recovery.

目的:研究获得性孤立性眼运动神经麻痹(OMNPs)患者的临床表现和恢复模式。方法:纳入不同病因导致的 5 岁以上眼运动神经麻痹患者。记录人口统计学和眼部细节,并进行斜视评估。观察患者 3 个月和 6 个月后的恢复情况。结果显示成人的 OMNP 更常见,顺序为 VI 神经 > III 神经 > IV 神经。缺血性原因(35%)次之,特发性原因(26.3%)再次之。III 神经麻痹均为单侧,其中所有缺血性麻痹均为瞳孔缺失。到 6 个月时,超过 50 名完全康复的患者有缺血性和特发性麻痹。基线偏差越小,康复效果越好。结论:获得性孤立 OMNPs 大多与缺血有关,超过 80% 的病例在 6 个月后完全康复。缺血性或特发性 VI 神经麻痹以及基线偏差较小与自我康复有关。
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引用次数: 0
An atypical case of bilateral optic neuritis after strabismus surgery under general anesthesia. 全麻下斜视手术后双侧视神经炎的非典型病例。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-03-17 DOI: 10.1080/09273972.2024.2324166
Himani Pal, Anupam Singh, Sandhya Shrestha, Indar Kumar Sharawat, Prateek Kumar Panda, Barun Kumar

Introduction: Strabismus surgery under general anesthesia is a common procedure with rare complications in the form of hemorrhage, infection, slipped muscle, lost muscle, scleral perforation, and anterior segment ischemia. We report a unique case of bilateral optic neuritis following squint surgery under general anesthesia in a 15-year-old girl.

Methods: A 15-year-old girl presented with accommodative esotropia with V pattern. She underwent uneventful bilateral inferior oblique recession surgery under general anesthesia with Propofol 60 mg, Atracurium 30 mg, and Fentanyl 70 mcg. On the first post-operative day, the patient had an acute onset of temporal headache which was non-radiating. She responded to supportive treatment and was discharged. However, on the 7th postoperative day, she presented with a constant severe headache in the bitemporal region (left > right) for 3 days. She also experienced a painless diminution of vision for 2 days. There was no vomiting, fever, loose stools, diplopia, difficulty in breathing, peripheral sensation loss, generalized weakness, or bowel/bladder incontinence.

Results: The best corrected visual acuity was 6/9 in right eye, and 6/9p in left eye with a relative afferent pupillary defect (RAPD) in the left eye. Both optic discs appeared hyperemic with blurred margins. Magnetic resonance imaging (MRI) of the brain and orbit showed hyperintensity along the intraorbital and intracanalicular parts of bilateral optic nerves on T2 weighted image suggesting bilateral optic neuritis. She received intravenous methylprednisolone pulse therapy followed by oral steroids and responded to the medical treatment with improvement in vision but developed steroid-induced glaucoma requiring medical management over several weeks.

Discussion: Neuro-ophthalmic complication in the form of non-arteritic ischemic optic neuropathy has been reported after various ophthalmic surgeries, but bilateral optic neuritis has not been reported to date. This possibility should be kept in mind if any patient presents with similar symptoms. This report also highlights IOP monitoring in pediatric patients receiving systemic steroids to prevent loss of vision due to steroid-induced glaucoma.

导言:全身麻醉下的斜视手术是一种常见的手术,其罕见的并发症包括出血、感染、肌肉滑脱、肌肉脱落、巩膜穿孔和眼前节缺血。我们报告了一例15岁女孩在全身麻醉下接受斜视手术后发生双侧视神经炎的独特病例:方法:一名 15 岁女孩出现了 V 型适应性内斜。在丙泊酚 60 毫克、阿曲库铵 30 毫克和芬太尼 70 微克的全身麻醉下,她顺利地接受了双侧下斜肌后退手术。术后第一天,患者出现急性颞部头痛,无放射症状。她接受了支持性治疗后出院。但在术后第 7 天,她出现了持续 3 天的位颞区剧烈头痛(左侧>右侧)。她还经历了 2 天的无痛性视力减退。没有呕吐、发烧、便稀、复视、呼吸困难、周围感觉减退、全身无力或大便/膀胱失禁等症状:最佳矫正视力为右眼6/9,左眼6/9p,左眼有相对传入性瞳孔缺损(RAPD)。两个视盘均出现充血,边缘模糊。脑部和眼眶的磁共振成像(MRI)显示,T2加权图像上双侧视神经沿眶内和椎管内部分呈高密度,提示双侧视神经炎。她接受了静脉甲基强的松龙脉冲治疗,随后口服类固醇,对药物治疗反应良好,视力有所改善,但出现了类固醇诱发的青光眼,需要接受数周的药物治疗:讨论:各种眼科手术后出现非动脉缺血性视神经病变形式的神经眼科并发症已有报道,但双侧视神经炎迄今尚未见报道。如果患者出现类似症状,应牢记这种可能性。本报告还强调了对接受全身性类固醇治疗的儿童患者进行眼压监测,以防止类固醇诱发青光眼导致视力丧失。
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引用次数: 0
Monocular elevation deficit and causes: correspondence. 单眼仰视障碍及其原因:对应关系。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-05-30 DOI: 10.1080/09273972.2024.2350446
Hinpetch Daungsupawong, Viroj Wiwanitkit
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引用次数: 0
The Spiral of Tillaux: dead on accurate; a cadaveric study. 提洛螺旋:准确无误;尸体研究。
IF 0.9 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-05-06 DOI: 10.1080/09273972.2024.2346548
Eric J Kim, Viren K Rana, Andrew Barton, Surya Khatri, Shivani Rana, Jamie Schaefer

Introduction: The Spiral of Tillaux describes the historically accepted insertion distances of the medial rectus, inferior rectus, lateral rectus, and superior rectus from the limbus: 5.5 mm, 6.5 mm, 6.9 mm, and 7.7 mm, respectively. The corneal diameters are historically accepted to be 11.7 mm horizontally and 10.6 mm vertically in adults. We investigated the variability of the insertion distances of the extraocular rectus muscles from the limbus as well as the corneal diameters using eyes from human cadavers and compared our measurements to these historically accepted measurements.

Methods: A sample of 60 eyes were included. For each eye, a 360 peritomy was conducted and the conjunctiva bluntly dissected to view the sclera. Muscle hooks were utilized to isolate the extraocular rectus muscles. Calipers were used to measure the insertion distances of the rectus muscles as well as the corneal diameters.

Results: The mean rectus muscle insertions distances from the limbus were medial 5.28 mm, inferior 5.72 mm, lateral 6.40 mm, and superior 6.78 mm. These insertion distances were shorter than the historical benchmarks (p < .01). However, observed maximum distances of the rectus muscles were all greater than the historically accepted benchmarks, with the medial, inferior, lateral, and superior rectus muscles being 6.4 mm, 7.3 mm, 7.4 mm, and 7.8 m from the limbus, respectively. The mean width and height of the cornea were 11.7 mm and 10.7 mm, respectively, and similar to the expected ranges.

Conclusion: This study concludes that variability does exist from the historically accepted Spiral of Tillaux measurements. In addition, significant variation exists between male and female rectus muscle insertions. However, we did confirm that the rectus muscles followed the same spiral pattern described by the Spiral of Tillaux and concluded that the corneal diameters are consistent with previously accepted values.

介绍:Tillaux 螺旋线描述了历史上公认的内侧直肌、下直肌、外侧直肌和上直肌从角膜缘的插入距离,分别为 5.5 毫米、6.5 毫米、6.9 毫米和 7.7 毫米:分别为 5.5 毫米、6.5 毫米、6.9 毫米和 7.7 毫米。历史上公认的成人角膜直径水平方向为 11.7 毫米,垂直方向为 10.6 毫米。我们使用人类尸体的眼睛研究了眼外直肌插入距离角膜缘和角膜直径的变异性,并将我们的测量结果与这些历史公认的测量结果进行了比较:方法: 抽样调查了 60 只眼睛。每只眼睛都进行了 360 周切口,钝性剥离结膜以观察巩膜。使用肌肉钩分离眼外直肌。使用卡尺测量直肌的插入距离和角膜直径:直肌插入角膜缘的平均距离分别为内侧 5.28 毫米、下侧 5.72 毫米、外侧 6.40 毫米和上侧 6.78 毫米。这些插入距离均短于历史基准(P本研究得出结论,与历史上公认的蒂劳氏螺旋测量方法相比,确实存在差异。此外,男性和女性直肌插入点之间也存在明显差异。不过,我们确实证实了直肌遵循了蒂劳氏螺旋所描述的相同螺旋模式,并得出结论认为角膜直径与之前公认的值一致。
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引用次数: 0
Long-term visual and neurodevelopmental outcomes in children with Congenital Zika Syndrome after undergoing strabismus surgery. 先天性寨卡综合征患儿接受斜视手术后的长期视觉和神经发育结果。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-05-21 DOI: 10.1080/09273972.2024.2346551
Raíne Borba, Tatiane Freitas, Cláudia Marques, Lucélia Nóbrega, Taciana Higino, Camilla Rocha, Camila V Ventura, Juliana Sallum, Liana O Ventura

Purpose: To assess long-term visual and neurodevelopmental outcomes in children with congenital Zika syndrome (CZS) after strabismus surgery. Methods: A consecutive sample of five children with CZS who underwent strabismus surgery was enrolled. All children underwent a standardized pre- and postoperative protocol including binocular best-corrected visual acuity (BCVA) using the Teller Acuity Cards II (TAC II), ocular alignment, functional vision using the functional vision developmental milestones test (FVDMT), and neurodevelopmental milestone evaluation using the Bayley Scales of Infant Development-Third Edition (BSID-III). Scores of the FVDMT outcomes considering the child's developmental age based on the BSID-III score were compared with scores from postoperative assessment. Results: Five children with CZS (3 girls, 2 boys) were enrolled with a mean age at baseline (preoperative) of 35.0 ± 0.7 months (range, 34-36 months) and at final assessment of 64.4 ± 0.5 months (range, 64-65 months). Preoperative BCVA was 1.2 ± 0.5 logMAR and at final assessment 0.7 ± 0.1 logMAR. Successful strabismus surgery outcome was maintained in 4/5 (80.0%) of children at final assessment. The children's BSID-III scores showed significant neurodevelopment delay at the initial assessment (corresponding developmental mean age was 4.7 months) and at their final assessment (corresponding developmental mean age was 5.1 months). There was improvement or stability in 34/46 items evaluated in the FVDMT (73.9%) when comparing baseline with 2-year follow-up. Conclusions: Strabismus surgery resulted in long-term ocular alignment in the majority of children with CZS. All the children showed improvement or stability in more than 70.0% of the functional vision items assessed. Visual and neurodevelopmental dysfunction may be related to complex condition and associated disorders seen in CZS including ocular, neurological, and skeletal abnormalities.

目的:评估先天性寨卡综合征(CZS)患儿斜视手术后的长期视觉和神经发育效果。方法:对五名接受斜视手术的先天性寨卡综合征患儿进行连续抽样调查:连续抽取五名接受斜视手术的先天性寨卡综合征患儿。所有患儿均接受了标准化的术前和术后方案,包括使用泰勒视力卡 II(TAC II)进行双眼最佳矫正视力(BCVA)、眼球排列、使用功能性视力发育里程碑测试(FVDMT)进行功能性视力,以及使用贝利婴儿发育量表-第三版(BSID-III)进行神经发育里程碑评估。根据 BSID-III 评分考虑儿童发育年龄的 FVDMT 结果评分与术后评估的评分进行了比较。结果:5名CZS患儿(3女2男)的平均基线年龄(术前)为35.0 ± 0.7个月(34-36个月),最终评估年龄为64.4 ± 0.5个月(64-65个月)。术前 BCVA 为 1.2 ± 0.5 logMAR,最终评估结果为 0.7 ± 0.1 logMAR。最终评估结果显示,4/5(80.0%)的患儿成功接受了斜视手术。儿童的BSID-III评分在初次评估(相应的发育平均年龄为4.7个月)和最终评估(相应的发育平均年龄为5.1个月)时均显示出明显的神经发育延迟。与基线和两年随访相比,FVDMT评估的34/46个项目(73.9%)有所改善或保持稳定。结论:斜视手术可使大多数CZS患儿的眼球长期对齐。所有患儿在70.0%以上的功能性视力评估项目中均表现出改善或稳定。视觉和神经发育功能障碍可能与CZS的复杂情况和相关疾病(包括眼部、神经和骨骼异常)有关。
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引用次数: 0
Surgical treatment outcomes in heavy eye syndrome - a case series. 重眼综合征的手术治疗效果--病例系列。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-05-27 DOI: 10.1080/09273972.2024.2358074
Alexandre Reis Silva, Ágata Mota, José Alberto Lemos, Isabel Ribeiro, Renato Correia Barbosa, Ana Rita Viana, Catarina Francisco, Isabel Ferreira, Jorge Breda, Paula Tenedório

Results: The study cohort comprised five patients, each presenting with unilateral high axial myopia and classic clinical features of HES, including large angle esotropia, hypotropia, and restricted abduction and supraduction. All patients displayed evident superotemporal globe prolapse on MRI imaging, corresponding to the downward displacement of the LR muscle and medial shift of the SR muscle.Following the surgical procedure, all patients demonstrated significant improvements in both vertical and horizontal deviations, effectively addressing the primary clinical manifestations of HES.

Conclusions: In the management of HES, several surgical approaches have been explored, yielding mixed results. Our study, employing the technique of partial muscle splitting and scleral fixation, offers a promising avenue for effectively addressing this challenging condition. By adapting the full loop myopexy technique originally proposed by Yokoyama et al. we achieved satisfactory ocular alignment in all five patients. Notably, this approach mitigates the risk of anterior segment ischemia by preserving the unsecured portions of the SR and LR muscles along with MR retroequatorial myopexy.These findings support the consideration of this surgical technique as a safe and effective option for managing HES, providing both cosmetic and functional improvements to afflicted individuals.

研究结果研究对象包括五名患者,每名患者都患有单侧高度轴性近视和HES的典型临床特征,包括大视角内斜、视力低下、外展和上举受限。手术后,所有患者的垂直偏斜和水平偏斜均有明显改善,有效解决了HES的主要临床表现:结论:在治疗 HES 的过程中,人们探索了多种手术方法,但结果不一。我们的研究采用了部分肌肉分割和巩膜固定技术,为有效治疗这种具有挑战性的病症提供了一条前景广阔的途径。通过改良横山等人最初提出的全环肌瓣修复技术,我们为所有五名患者实现了令人满意的眼球对位。值得注意的是,这种方法通过保留 SR 和 LR 肌肉的未固定部分以及 MR 后赤道肌固定术,降低了前节缺血的风险。这些研究结果支持将这种手术技术作为治疗 HES 的一种安全有效的选择,为患者带来外观和功能上的改善。
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引用次数: 0
Unusual and Rare Causes of Monocular Elevation Deficit. 单眼仰视缺陷的不寻常和罕见原因。
IF 0.8 Q4 OPHTHALMOLOGY Pub Date : 2024-06-01 Epub Date: 2024-03-22 DOI: 10.1080/09273972.2024.2324198
Subhash Dadeya, Himshikha Aggarwal, Shipra Sharda, Aakanksha Raghuvanshi, Deepanshu Bodwal

Introduction: To study the rare and unusual causes of monocular elevation deficit.

Methods: Five patients presenting to us with diplopia and elevation deficit were thoroughly examined and were found to have monocular elevation deficit due to rare causes.

Observations: All five were found to have different underlying etiologies - iatrogenic, sphenoid wing meningioma, cysticercosis, sarcoidosis and mid brain infarct, and were managed appropriately.

Discussion: Monocular Elevation Deficit can occur due to a variety of causes. Having a high index of suspicion for the more serious etiologies is of utmost importance. Thorough clinical examination and imaging help clinch the diagnosis.

简介:目的:研究单眼仰视障碍的罕见原因:研究导致单眼抬举障碍的罕见和不寻常原因:方法:对五名复视和抬举障碍患者进行全面检查,发现其单眼抬举障碍的原因罕见:观察结果:这五名患者均有不同的潜在病因--先天性脑膜瘤、蝶骨翼脑膜瘤、脑囊虫病、肉芽肿病和中脑梗塞,均得到了妥善处理:讨论:单眼抬举障碍可由多种原因引起。对较严重的病因高度怀疑至关重要。全面的临床检查和影像学检查有助于确诊。
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引用次数: 0
Subnormal visual acuity after compliant amblyopia therapy: residual/refractory amblyopia or co-existing pathology? - a retrospective analysis. 顺应性弱视治疗后视力异常:残留/难治性弱视还是并存病理?- 回顾性分析。
IF 0.9 Q4 OPHTHALMOLOGY Pub Date : 2024-03-01 Epub Date: 2024-02-04 DOI: 10.1080/09273972.2023.2294997
Virender Sachdeva, Bidisha Bhattacharya, Snehal Ganatra, Ramesh Kekunnaya

Purpose: To assess the prevalence of alternate etiology/co-existing pathology among patients with amblyopia, and to characterize factors contributing to over-diagnosis of amblyopia. Methods: We retrospectively reviewed records of children (from 1 January 2016 to 31 December 2019) who were initially diagnosed as "amblyopia" but later an alternate diagnosis for subnormal vision was established. Patients who had a best corrected visual acuity (BCVA) of ≤20/32 (0.2 logMAR) after compliant amblyopia therapy were divided into 2 groups: those with refractory amblyopia (BCVA improvement from baseline <1 logMAR line) and residual amblyopia (BCVA improvement from baseline >1 logMAR line). Data was collected for presence/absence of amblyogenic risk factors, history, ocular examination, and investigations leading to the final alternate diagnosis. We analyzed the factors that contributed to the initial over-diagnosis of amblyopia using the diagnostic error evaluation and research (DEER) taxonomy tool. Results: During the study period, 508 children with an initial diagnosis of amblyopia met the study criteria. Among these 508 children, 466 were diagnosed to have amblyopia alone, while 26 children (5.1%, median age: 7 years, 17 boys: 9 girls) were revised to have an alternate diagnosis/co-existing pathology. These 26 patients comprised of 2 groups: children referred to us as amblyopia but rediagnosed to have an alternate diagnosis; and a second subset, initially diagnosed by us to have amblyopia, but later found to have alternate diagnosis/co-existing pathology. Subclinical optic neuritis (50%, 13 children), and occult macular dystrophy (OMD) (38.4%, 10 children) were the most frequent alternative diagnoses. Children with ametropic amblyopia (8/26, 30.7%) were most frequently misdiagnosed. Risk factors that led to an initial diagnosis of amblyopia were: high refractive error and heterotropia in 7 patients each (26.9%), anisometropia in 12 (46.1%), and prior pediatric cataract surgery in 4(15.3%). No improvement in BCVA in 21/26 (80.7%) children led to suspicion of co-existing etiology. Other clues were optic disc pallor (11), subnormal color vision (7), history of parental consanguinity in 7, and preceding febrile illness/rhinitis in 1 child. The DEER taxonomy tool suggested that the most common reasons for diagnostic errors were over-emphasis on amblyopia. Conclusion: Our study suggests that 5% of children diagnosed with amblyopia might have co-existing/alternate etiology. Most common co-existing etiologies were subclinical optic neuropathy, and OMD. No improvement in BCVA, subtle history and examination findings prompted further workup. Not considering co-existing etiologies was the most common reason for an initial overdiagnosis of amblyopia.

目的:评估替代病因/并存病理在弱视患者中的流行率,并确定导致弱视过度诊断的因素。研究方法我们回顾性地查看了最初被诊断为 "弱视",但后来被确定为视力不正常的替代诊断的儿童记录(2016 年 1 月 1 日至 2019 年 12 月 31 日)。将接受弱视治疗后最佳矫正视力(BCVA)≤20/32(0.2 logMAR)的患者分为两组:难治性弱视组(BCVA比基线提高1 logMAR线)。收集的数据包括是否存在致弱视风险因素、病史、眼部检查和导致最终替代诊断的检查。我们使用诊断错误评估与研究(DEER)分类工具分析了导致最初过度诊断弱视的因素。研究结果在研究期间,有 508 名初次诊断为弱视的儿童符合研究标准。在这508名儿童中,466名儿童被诊断为单纯性弱视,26名儿童(5.1%,年龄中位数:7岁,17名男孩:9名女孩)被修正为有其他诊断/并存病症。这26名患者包括两组:一组是被转诊为弱视,但重新诊断为其他诊断的儿童;另一组是最初被诊断为弱视,但后来发现有其他诊断/并存病理的儿童。亚临床视神经炎(50%,13名儿童)和隐性黄斑营养不良(OMD)(38.4%,10名儿童)是最常见的替代诊断。各向异性弱视儿童(8/26,30.7%)最常被误诊。导致最初诊断为弱视的风险因素有:高度屈光不正和异性斜视各占 7 例(26.9%),异性斜视占 12 例(46.1%),曾接受过小儿白内障手术占 4 例(15.3%)。21/26(80.7%)名患儿的视力均无改善,这让人怀疑是否存在并存病因。其他线索还包括视盘苍白(11 例)、色觉异常(7 例)、7 例父母有近亲结婚史、1 例患儿曾患发热性疾病/鼻炎。DEER分类工具表明,诊断错误最常见的原因是过度强调弱视。结论我们的研究表明,5%被诊断为弱视的儿童可能有并存/替代病因。最常见的并存病因是亚临床视神经病变和OMD。BCVA没有改善、病史和检查结果不明确,都需要进一步检查。未考虑并存病因是最初过度诊断弱视的最常见原因。
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引用次数: 0
Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy. 小儿近视斜视固定术:硅胶带环式近视手术的临床特征和手术效果。
IF 0.9 Q4 OPHTHALMOLOGY Pub Date : 2024-03-01 Epub Date: 2024-02-21 DOI: 10.1080/09273972.2024.2306348
Sakshi Lalwani, Virender Sachdeva, Ramesh Kekunnaya

Purpose: To evaluate the clinical profile of myopic strabismus fixus (MSF) in children and surgical outcomes of silicone band loop myopexy.

Method: We retrospectively reviewed records of children presenting with MSF who underwent silicone band loop myopexy between January 2008 and December 2020 at a tertiary eye care center. Data concerning demographics, refractive error, axial length, extra-ocular motility, and ocular alignment pre-operatively and post-operatively, intra- and post-operative complications, ocular and systemic associations, were evaluated. The long-term effects of band loop myopexy on ocular alignment stability, motility improvement, and myopia progression were analyzed. Surgical outcome was defined as post-operative orthotropia or heterotropia less than or equal to 20 PD.

Results: A total of0 eyes of 7 patients (median age: 5 years; 5 boys and 2 girls) who underwent band loop myopexy were included in the study. Among them, three children underwent bilateral and four children underwent unilateral band loop myopexy. Medial rectus recession was performed only in two patients as a part of initial procedure. The median follow-up duration was 7 years. Most of the children, i.e. six of them presented with esotropia-hypotropia and only one patient presented with exotropia-hypotropia complex. The median pre-operative measurements were esotropia of 62.5 PD, hypotropia of5 PD, and exotropia of4 PD. Postoperative average primary position deviation measured was close to 9-10 PD of esotropia. The overall motility improved to -1 from -3.

Conclusion: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.

目的:评估儿童近视斜视固定(MSF)的临床表现以及硅胶带环式近视矫正术的手术效果:我们回顾性研究了2008年1月至2020年12月期间在一家三级眼科医疗中心接受硅胶带环式近视手术的MSF患儿的记录。评估了有关人口统计学、屈光不正、眼轴长度、眼球外运动、术前和术后眼球对位、术中和术后并发症、眼部和全身相关性的数据。分析了带环近视手术对眼球对位稳定性、眼球运动改善和近视发展的长期影响。手术结果定义为术后正位或异位小于或等于 20 PD:共有7名患者的0只眼睛(中位年龄:5岁;5名男孩和2名女孩)接受了带环近视手术。其中,3 名儿童接受了双侧带环肌缩短术,4 名儿童接受了单侧带环肌缩短术。只有两名患者在初次手术中进行了内直肌后撤。中位随访时间为 7 年。大多数患儿,即其中六名患儿表现为内斜视-下斜视,只有一名患儿表现为外斜视-下斜视综合症。术前测量的中位数为内斜 62.5 度,外斜 5 度,外斜 4 度。术后测得的平均主要位置偏差接近 9-10 PD 的内斜。整体运动能力从-3.结论改善到-1:儿童 MSF 的临床特征与成人几乎相似。这种情况在成人和儿童中都很罕见。大多数 MSF 患儿都伴有内斜视-下斜视综合症。事实证明,硅胶带环式近视矫正术(带或不带内直肌后缩术)是一种可靠的手术方法,因为它能为儿童提供稳定的眼球排列和运动效果。
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引用次数: 0
Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome. 一个中国杜安回缩综合征家族中CHN1基因一个新突变位点的特殊临床特征。
IF 0.9 Q4 OPHTHALMOLOGY Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.1080/09273972.2023.2299470
Minshu Wang, Jing Liu, Honglei Pang, Juan Bu

Purpose: This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases.

Methods: Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology.

Results: The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia.(NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C).

Conclusions: A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.

目的:本研究旨在描述一个中国杜安回缩综合征变异型家族的特殊临床和基因型特征,并介绍我们处理这些病例的经验:方法:对一个家族中的四名患者进行眼科检查,发现其中两名患者受影响,两名患者未受影响。对两名患者进行了核磁共振扫描。通过新一代测序技术筛查了相关基因突变,并通过桑格测序技术进行了确认:结果:6 岁的疑似患者具有严重水平注视功能障碍、外斜视和轻度脊柱侧弯等特殊临床特征。他的母亲表现为双眼外展明显受限,眼球内收。核磁共振扫描结果显示,两名患者均未发现外展神经,而探查者的眼球运动神经略微变细。该患者和他的母亲具有相同的 CHN1 基因突变位点(c. 62A>G; p.Y21C)。我们对该患者进行了斜视手术,以矫正原发性注视外斜:结论:在一个中国杜安回缩综合征家族中发现了一个新的 CHN1 基因突变。值得注意的是,该患者及其母亲表现出不同的眼球运动障碍临床特征。斜视矫正手术和弱视训练有助于改善该患者的外观和视觉功能。
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