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Single-cell transcriptomics in thyroid eye disease 甲状腺眼病的单细胞转录组学研究
Q4 OPHTHALMOLOGY Pub Date : 2023-10-20 DOI: 10.4103/tjo.tjo-d-23-00096
Sofia Ahsanuddin, Albert Y. Wu
Abstract Thyroid eye disease (TED) is a poorly understood autoimmune condition affecting the retroorbital tissue. Tissue inflammation, expansion, and fibrosis can potentially lead to debilitating sequelae such as vision loss, painful eye movement, proptosis, and eyelid retraction. Current treatment modalities for TED include systemic glucocorticoids, thioamides, methimazole, teprotumumab, beta-blockers, and radioactive iodine; however, it has been reported that up to 10%–20% of TED patients relapse after treatment withdrawal and 20%–30% are unresponsive to mainstay therapy for reasons that have yet to be more clearly elucidated. In the past 4 years, vision researchers have harnessed high-throughput single-cell RNA sequencing to elucidate the diversity of cell types and molecular mechanisms driving the pathogenesis of TED at single-cell resolution. Such studies have provided unprecedented insight regarding novel biomarkers and therapeutic targets in TED. This timely review summarizes recent breakthroughs and emerging opportunities for using single-cell and single-nuclei transcriptomic data to characterize this highly complex disease state. We also provide an overview of current challenges and future applications of this technology to potentially improve patient quality of life and facilitate reversal of disease endpoints.
甲状腺眼病(TED)是一种影响眶后组织的自身免疫性疾病。组织炎症、扩张和纤维化可能导致衰弱的后遗症,如视力下降、眼球运动疼痛、眼球突出和眼睑收缩。目前TED的治疗方式包括全身性糖皮质激素、硫胺、甲巯咪唑、替原单抗、受体阻滞剂和放射性碘;然而,据报道,高达10%-20%的TED患者在停药后复发,20%-30%的患者对主流治疗无反应,原因尚不清楚。在过去的4年里,视觉研究人员利用高通量单细胞RNA测序来阐明单细胞分辨率下驱动TED发病机制的细胞类型多样性和分子机制。这些研究为新的生物标志物和治疗靶点提供了前所未有的见解。这篇及时的综述总结了利用单细胞和单核转录组学数据来表征这种高度复杂的疾病状态的最新突破和新兴机会。我们还概述了该技术的当前挑战和未来应用,以潜在地改善患者的生活质量并促进疾病终点的逆转。
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引用次数: 0
Approach to primary congenital glaucoma: A perspective 原发性先天性青光眼的治疗方法
Q4 OPHTHALMOLOGY Pub Date : 2023-10-19 DOI: 10.4103/tjo.tjo-d-23-00104
Anil Kumar Mandal, Debasis Chakrabarti, Vijaya K. Gothwal
Abstract: Primary congenital glaucoma (PCG) occurs worldwide and has a broad range of ocular manifestations. It poses a therapeutic challenge to the ophthalmologist. A proper diagnostic evaluation under anesthesia is advisable for all children who do not cooperate for an office examination. Medical therapy only serves as a supportive role, and surgical intervention remains the principal therapeutic modality. Angle incision surgery such as goniotomy or trabeculotomy ab externo is the preferred choice of surgery in the Caucasian population. Primary combined trabeculotomy-trabeculectomy with or without antifibrotic therapy is the preferred choice in certain regions such as India and the Middle East where the disease usually presents with severe forms of corneal edema along with megalocornea. In refractory cases, trabeculectomy with antifibrotic therapy or glaucoma drainage devices are available options in the armamentarium. Cycloablative procedures should be reserved for eyes with poor visual potential. Myopia is common among children with PCG, and appropriate optical refractive correction in the form of glasses or contact lenses should be provided. Amblyopia therapy should be instituted to ensure overall visual development in the early developmental years. Low-vision rehabilitation services should be provided to children with vision impairment. Long-term follow-up is mandatory and carers of children with PCG should be counseled and educated about this need. Regardless of the visual outcomes, clinicians should emphasize the need for education of these children during the clinic visit. The overall goal of the management should be to improve the overall quality of life of the children with PCG and their carers.
摘要原发性先天性青光眼(PCG)在世界范围内均有发生,具有广泛的眼部表现。这对眼科医生提出了治疗上的挑战。对于所有不配合办公室检查的儿童,建议在麻醉下进行适当的诊断评估。药物治疗仅起辅助作用,手术干预仍是主要的治疗方式。角切口手术,如阴囊切开术或外小梁切开术是高加索人群的首选手术。原发性小梁切除术联合小梁切除术加或不加抗纤维化治疗是某些地区的首选,如印度和中东,在这些地区,该病通常表现为严重的角膜水肿和大角膜。在难治性病例中,小梁切除术联合抗纤维化治疗或青光眼引流装置是医疗设施中可用的选择。睫状体消融手术应保留给视力差的眼睛。近视在患有PCG的儿童中很常见,应提供适当的光学屈光矫正,如眼镜或隐形眼镜。弱视治疗应在早期发展阶段进行,以确保整体的视觉发展。为视力受损儿童提供低视力康复服务。长期随访是强制性的,患有PCG的儿童的照顾者应该得到有关这一需求的咨询和教育。无论视力结果如何,临床医生都应强调在门诊访问期间对这些儿童进行教育的必要性。管理的总体目标应是提高PCG患儿及其照顾者的整体生活质量。
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引用次数: 0
Novel surgical technique for macular holes with basal diameter >1000 μ 基底直径1000 μ的黄斑孔的新手术技术
Q4 OPHTHALMOLOGY Pub Date : 2023-10-18 DOI: 10.4103/tjo.tjo-d-23-00025
Debdulal Chakraborty, Soumen Mondal, Sabyasachi Sengupta, Subhendu Boral, Arnab Das
Abstract: Closure rate of full-thickness macular holes (FTMHs) with basal diameter >1000 μ is known to be poor. Patients presenting with FTMH having a minimum basal diameter of >1000 μ without any coexistent retinal morbidity were offered vitrectomy, internal limiting membrane peeling, retinal massage, and aspiration of subretinal fluid from the MH. Visual acuity (VA) and spectral-domain optical coherence tomography (SD OCT) assessments were performed at baseline, week 1 after surgery and at postoperative months 1, 3, 6, and 12. VA, type of hole closure, presence of ellipsoid zone, and external limiting membrane defect were monitored. The primary endpoint was type 1 anatomical hole closure. Secondary outcome measure was a change in VA from baseline to 6-month follow-up and persistent hole closure at the final follow-up of 12 months. The mean age was 67.1 ± 9.1 years. Seven eyes were pseudophakic, and two underwent combined phacoemulsification with MH surgery. The mean minimum basal diameter of FTMH was 1162.4 ± 161 μ. The mean duration of visual loss was 11.3 ± 1.93 months. Type 1 closure of FTMH was seen in all patients on SD OCT, on the 7 th postoperative day. The mean presenting VA was 1.06 ± 0.1 Logarithm of the minimum angle of resolution (logMAR). Best-corrected visual acuity improved to 0.91 ± 0.09 logMAR at 1-month follow-up ( P = 0.005) (95% confidence interval [CI]: 0.061–0.251), 0.63 ± 0.1 logMAR ( P < 0.001) (95% CI 0.339–0.527) at 3 months, and 0.55 ± 0.05 logMAR ( P < 0.001) (95% CI 0.414–0.609) at 6 months. All holes were found closed at the final follow-up of 12 months. This novel technique can help achieve better outcomes and raise the primary anatomical success rate of FTMH with basal diameter >1000 μ.
摘要:基底直径为>1000 μ的全层黄斑孔闭合率较差。基底直径最小为1000 μ且无任何并发视网膜病变的FTMH患者接受玻璃体切除术、内限制膜剥离、视网膜按摩和从MH吸出视网膜下液。在基线、手术后第1周和术后1、3、6和12个月进行视力(VA)和光谱域光学相干断层扫描(SD OCT)评估。监测VA、闭孔类型、椭球带的存在和外限制膜缺陷。主要终点为1型解剖孔闭合。次要结果测量是从基线到随访6个月的VA变化,以及在最后随访12个月时持续的孔闭合。平均年龄67.1±9.1岁。7只眼为假性晶状体,2只行超声乳化术联合MH手术。FTMH平均最小基底直径为1162.4±161 μ。平均视力下降时间为11.3±1.93个月。术后第7天,所有患者的SD OCT显示FTMH为1型闭合。VA的平均值为最小分辨角(logMAR)的1.06±0.1对数。随访1个月,最佳矫正视力改善至0.91±0.09 logMAR (P = 0.005)(95%可信区间[CI]: 0.061-0.251), 0.63±0.1 logMAR (P <0.001) (95% CI 0.339-0.527)和0.55±0.05 logMAR (P <0.001) (95% CI 0.414-0.609)。在12个月的最后随访中发现所有孔都闭合。该方法可提高基底直径为1000 μ的FTMH的初步解剖成功率。
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引用次数: 0
Secondary developmental glaucoma 继发性发育性青光眼
Q4 OPHTHALMOLOGY Pub Date : 2023-10-16 DOI: 10.4103/tjo.tjo-d-23-00064
Sushmita Kaushik, Jyoti Singh, Surinder Singh Pandav
Abstract The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment. Many genes impact the development of the anterior segment. The cause of the development of the abnormalities is thought to be multifactorial. Molecular research has helped our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum rather than isolated anomalies. The characterization of the underlying genetic abnormalities responsible for glaucoma is the first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids prenatal testing by various methods allowing for effective genetic counseling. This review summarizes various ocular and systemic conditions that result in secondary developmental glaucoma and provide an overview of the phenotypes, the diagnosis and principles of management of the various disorders.
所有儿童青光眼的基本病理生理都是由于小梁网流出物受损所致。前段发育异常(ASD)是一组与继发性青光眼相关的非获得性异常,其特征是前段结构发育受损。许多基因影响前段的发育。异常发展的原因被认为是多因素的。分子研究有助于我们了解自闭症谱系障碍的分子基础和这些疾病的发育机制。识别ASD背后的遗传变化逐渐使人们认识到,其中一些情况可能是疾病谱系的一部分,而不是孤立的异常。对导致青光眼的潜在基因异常的描述是发展诊断和筛查测试的第一步,这可以在不可逆的视神经损伤发生之前识别出有疾病风险的个体。这对于遗传咨询和后期妊娠的风险分层也是至关重要的。它还通过各种方法帮助产前检测,从而提供有效的遗传咨询。本文综述了导致继发性青光眼的各种眼部和全身疾病,并概述了各种疾病的表型、诊断和治疗原则。
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引用次数: 0
Comment on: "Ganglion cell complex and retinal nerve fiber layer thickness in gestational diabetes mellitus". 评论"妊娠糖尿病患者的神经节细胞复合体和视网膜神经纤维层厚度
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-09-22 eCollection Date: 2023-10-01 DOI: 10.4103/tjo.TJO-D-22-00183
Thiago Gonçalves Dos Santos Martins
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引用次数: 0
Femtosecond laser-assisted corneal transplantation. 飞秒激光辅助角膜移植
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-09-08 eCollection Date: 2023-07-01 DOI: 10.4103/tjo.TJO-D-23-00080
Chang Liu, Jodhbir S Mehta, Yu-Chi Liu

Corneal transplantation is the only surgical option to improve symptoms and vision in patients with severe corneal opacification. With the evolution and development of keratoplasty techniques, corneal surgeons can perform customized keratoplasty, with complex graft-host junctions to promote wound healing and accelerate visual rehabilitation. Femtosecond laser (FSL) enable customization of the thickness and shape of the graft has been used for trephination of both donor and recipient corneas and for creating special wound configurations. In this review, we have summarized the intraoperative application and postoperative outcomes of FSL-assisted keratoplasties, including penetrating keratoplasty, anterior lamellar keratoplasty (ALK), deep ALK, Descemet stripping automated endothelial keratoplasty (EK), and Descemet membrane EK. Although FSL allows for the customization and precision in keratoplasty, several concerns, such as cost-effectiveness, limit its wider clinical adoption. Hence, more work is required to weigh the advantages and limitations of the FSL applications in corneal transplantation.

角膜移植是改善严重角膜混浊患者症状和视力的唯一手术选择。随着角膜移植技术的发展,角膜外科医生可以进行定制的角膜移植术,通过复杂的移植物-宿主连接来促进伤口愈合和加速视觉康复。飞秒激光(FSL)可定制移植物的厚度和形状,已用于对供体和受体角膜进行钻孔,并用于创建特殊的伤口配置。在这篇综述中,我们总结了FSL辅助角膜移植术的术中应用和术后结果,包括穿透性角膜移植术、前板层角膜移植术(ALK)、深层ALK、后弹力剥离自动内皮角膜移植术和后弹力膜角膜移植术。尽管FSL允许角膜移植术的定制和精确性,但一些问题,如成本效益,限制了其更广泛的临床应用。因此,需要更多的工作来权衡FSL在角膜移植中应用的优势和局限性。
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引用次数: 0
Tenon excision with fibrin glue-assisted reattachment of conjunctiva flap (T.E.F.A.R.C) for the treatment of conjunctivochalasis. 纤维蛋白胶辅助结膜瓣复位治疗结膜松弛症
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-09-08 eCollection Date: 2023-07-01 DOI: 10.4103/tjo.TJO-D-23-00054
Yi-Ting Hou, Bing-Jun Hsieh, Jo-Hsuan Wu, Wei-Lun Huang, Wei-Li Chen

To observe the surgical outcome of "Tenon Excision with Fibrin Glue-Assisted Reattachment of Conjunctiva Flap" (T.E.F.A.R.C.) for the treatment of symptomatic conjunctivochalasis (CCH). This is a retrospective case series of CCH patients undergoing T.E.F.A.R.C. from January 2017 to December 2020 were reviewed. Seven patients (14 eyes) with symptomatic CCH received T.E.F.A.R.C. in both eyes. The symptoms before and after the procedures were compared and surgical complication was evaluated. The mean follow-up time was 13.7 ± 2.14 months. After the operation, resolution of the symptoms was reported in 12 eyes (86%). The grade of CCH decreased from 3 to 0 in all 14 eyes, and the restoration of inferior conjunctival surface and fornix within 1 day was also observed in all eyes. Most patients had localized injection and mild chemosis after the operation, which mostly recovered within 3 weeks. No complication or recurrence of CCH was reported after 1 year of follow-up. In conclusion, T.E.F.A.R.C. is a simple and effective treatment option for CCH with less surgical complication. Future larger studies are needed to confirm its clinical applicability.

目的观察“纤维蛋白胶辅助结膜瓣再植术”治疗症状性结膜松弛症(CCH)的手术效果。本研究回顾了2017年1月至2020年12月接受T.E.F.A.R.C.的CCH患者的回顾性病例系列。7例(14只眼)有症状的CCH患者接受了双眼T.E.F.A.R.C.治疗。比较手术前后的症状,评估手术并发症。平均随访时间13.7±2.14个月。术后12只眼(86%)症状消失。14只眼CCH评分均由3级降至0级,下结膜面及穹窿均在1天内恢复。多数患者术后局部注射,轻度化脓,3周内痊愈。随访1年,无CCH并发症及复发。总之,T.E.F.A.R.C.是一种简单有效的治疗CCH的方法,手术并发症少。未来需要更大规模的研究来证实其临床适用性。
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引用次数: 0
Femtosecond laser applications in corneal surgery. 飞秒激光在角膜手术中的应用
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-09-08 eCollection Date: 2023-07-01 DOI: 10.4103/tjo.TJO-D-23-00083
Fernando Morales-Wong, Alejandro Navas, Guillermo E Yañez-Oviedo, Karim Mohamed-Noriega

Femtosecond laser (FSL) applications in corneal surgery have increased since its inception. Corneal surgery has undergone a tremendous transformation thanks to the introduction of FSL technology. This laser makes precise, three-dimensional incisions while causing minimal damage to surrounding tissue. This review updates and summarizes current and upcoming FSL applications in corneal surgery, current commercially available FSL, and its respective applications. Refractive surgery applications include laser in-situ keratomileusis flaps, refractive corneal lenticule extraction such as small incision lenticule extraction, astigmatic keratotomy, intracorneal ring segments tunnels for keratoconus including corneal allogenic intrastromal ring segments, and presbyopia treatments with intrastromal pockets for corneal inlays and intrastromal incisions (INTRACOR). Keratoplasty applications include penetrating keratoplasty trephination; superficial and deep anterior lamellar keratoplasty trephination, lamellar dissection, and tunnel creation; posterior lamellar keratoplasty donor and recipient preparation; Bowman layer transplantation donor, and recipient preparation; and stromal keratophakia. Other applications include conjunctival graft preparation in pterygium surgery, and keratopigmentation (corneal tattooing). FSL is a surgical instrument widely used in corneal surgery because it improves reproducibility and safety in many procedures.

飞秒激光(FSL)自问世以来在角膜手术中的应用不断增加。由于FSL技术的引入,角膜手术发生了巨大的变化。这种激光可以在对周围组织造成最小伤害的同时,切割出精确的三维切口。这篇综述更新和总结了目前和未来的FSL在角膜手术中的应用,目前市售的FSL及其各自的应用。屈光手术的应用包括激光原位角膜磨瓣、屈光性角膜晶状体提取(如小切口晶状体提取)、散光角膜切开术、圆锥角膜的角膜环段隧道治疗(包括角膜异体间环段)以及角膜嵌体和角膜内切口(INTRACOR)的角膜内袋治疗老花眼。角膜移植术的应用包括穿透性角膜移植术;浅层和深层前板层角膜移植术;后板层角膜移植术供体和受体准备;鲍曼层移植供体、受体准备;还有间质角膜斜视。其他应用包括翼状胬肉手术中的结膜移植准备和角膜色素沉着(角膜纹身)。FSL是一种广泛应用于角膜手术的手术器械,因为它提高了许多手术的重复性和安全性。
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引用次数: 0
Application of femtosecond laser in anterior segment surgery. 飞秒激光在前段手术中的应用
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-09-08 eCollection Date: 2023-07-01 DOI: 10.4103/tjo.TJO-D-23-00098
Yu-Chi Liu
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引用次数: 0
Corneal epithelial changes in a patient treated with belantamab mafodotin. 贝兰他单抗-马福多汀治疗患者角膜上皮的变化
IF 1.1 Q4 OPHTHALMOLOGY Pub Date : 2023-08-11 eCollection Date: 2023-07-01 DOI: 10.4103/tjo.TJO-D-22-00171
Leandro Inferrera, Rosa Giglio, Daniele Tognetto

The aim of the study is to report a case of corneal epithelial changes in a patient with refractory multiple myeloma (MM) who was treated with belantamab mafodotin (BM). A 55-year-old man diagnosed with refractory MM was referred to our hospital for treatment with BM, an antibody-drug conjugate targeting B-cell maturation antigen. After 33 days of treatment, the patient experienced a bilateral reduction in visual acuity (VA), along with dry eye symptoms such as itchy eyes and a sensation of having a foreign body. Slit-lamp examination revealed the presence of diffuse microcystic epithelial changes throughout the cornea. BM treatment was discontinued by the oncologist. Sixty days after stopping belantamab, VA gradually improved and the microcystic epithelial alterations progressively diminished. Ninety days after discontinuation of therapy, only a few microcystic epithelial alterations remained, and the patient had 20/20 VA in both eyes. While BM is an effective therapy for refractory MM, corneal epithelial changes are among the most common side effects of this treatment. Close collaboration between ophthalmologists and oncologists is crucial for assessing ocular adverse effects and tailoring treatment accordingly.

该研究的目的是报告一例难治性多发性骨髓瘤(MM)患者角膜上皮改变,该患者接受贝兰他单抗(BM)治疗。一名55岁男性诊断为难治性MM转介到我院治疗BM,靶向b细胞成熟抗原的抗体-药物偶联物。经过33天的治疗,患者出现了双侧视力下降(VA),同时出现了眼睛发痒和异物感等干眼症状。裂隙灯检查显示整个角膜存在弥漫性微囊性上皮改变。肿瘤学家停止了BM治疗。停用贝兰他单抗60天后,VA逐渐改善,微囊性上皮改变逐渐减少。停药90天后,仅保留少量微囊性上皮改变,患者双眼VA为20/20。虽然BM是难治性MM的有效治疗方法,但角膜上皮改变是这种治疗最常见的副作用之一。眼科医生和肿瘤学家之间的密切合作对于评估眼部不良反应和相应地定制治疗至关重要。
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引用次数: 0
期刊
Taiwan Journal of Ophthalmology
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