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The Application of Artificial Intelligence in Epiretinal Membrane from Detection to Prognosis Prediction. 人工智能在视网膜前膜从检测到预后预测中的应用。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-10 DOI: 10.1080/08820538.2025.2583072
Muxin Xu, Jianwei Lin, Shirong Chen, Yuqiang Huang

Introduction: Epiretinal membrane (ERM) is a prevalent vitreoretinal interface disorder characterized by fibro-cellular proliferation on the inner retinal surface. The prevalence increases markedly with age, and progressive membrane contraction distorts retinal architecture, producing metamorphopsia and irreversible visual impairment thereby significantly impairing patients' quality of life. This highlights the need for more accurate and efficient diagnostic and therapeutic strategies. Artificial intelligence (AI) has emerged as a promising tool to address such challenges. This review summarizes and evaluates recent studies on the applications of AI in ERM management, identifying current limitations and future research directions.

Methods: A comprehensive literature search was conducted in PubMed, Web of Science, Embase, and Cochrane Library databases, focusing on studies related to AI and ERM published over the past decade.

Results: The findings indicate that while research on treatment and prognosis prediction remains limited, and new technologies are expected in image processing, current AI models demonstrate substantial potential in the ERM management, especially in detection and diagnosis.

Discussions: Nonetheless, current evidence is constrained by challenges such as single-center design, limited external validation across devices or ethnicities, insufficient multimodal imaging, and lack of health-economic or workflow integration data. Future multicenter prospective studies, federated learning platforms, publicly annotated imaging dataset and cost-effectiveness analyses are warranted to develop robust, generalizable models that can be seamlessly integrated into clinical workflows, substantially optimizing ERM management and delivering tangible benefits to both patients and clinical practice.

视网膜外膜(ERM)是一种常见的玻璃体视网膜界面疾病,其特征是视网膜内表面纤维细胞增生。随着年龄的增长,患病率明显增加,进行性膜收缩使视网膜结构扭曲,产生变形和不可逆的视力损害,从而严重影响患者的生活质量。这突出表明需要更准确和有效的诊断和治疗策略。人工智能(AI)已经成为解决这些挑战的一个有前途的工具。本文对人工智能在ERM管理中的应用研究进行了总结和评价,指出了当前的局限性和未来的研究方向。方法:在PubMed、Web of Science、Embase和Cochrane Library数据库中进行全面的文献检索,重点检索近十年来发表的与人工智能和ERM相关的研究。结果:研究结果表明,尽管在治疗和预后预测方面的研究仍然有限,并且在图像处理方面有望采用新技术,但目前的人工智能模型在ERM管理方面,特别是在检测和诊断方面显示出巨大的潜力。讨论:尽管如此,目前的证据受到诸如单中心设计、跨设备或种族的有限外部验证、多模式成像不足以及缺乏健康经济或工作流程集成数据等挑战的限制。未来的多中心前瞻性研究、联合学习平台、公开注释的成像数据集和成本效益分析有必要开发强大的、可推广的模型,这些模型可以无缝集成到临床工作流程中,从而大大优化ERM管理,并为患者和临床实践带来切实的好处。
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引用次数: 0
Lacrimal History - Part 75: Doyens of Dacryology Series - Fano Salvador (1824-1895) and His Lacrimal Pump Device, Concepts of Lacrimal Sac Catarrh and Its Histology. 泪史-第75部分:泪学系列的几十年-法诺·萨尔瓦多(1824-1895)和他的泪泵装置,泪囊黏膜炎及其组织学的概念。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-06 DOI: 10.1080/08820538.2025.2585700
Mohammad Javed Ali
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引用次数: 0
Lacrimal History - Part 78: Doyens of Dacryology Series - Ferdinand Leopold Kersten (1804-1853) and His 1828 Doctoral Thesis on Dacryoliths. 泪史-第78部分:泪学系列-费迪南德·利奥波德·克斯滕(1804-1853)和他1828年关于泪石的博士论文。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-06 DOI: 10.1080/08820538.2025.2585715
Mohammad Javed Ali
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引用次数: 0
Advancements and Collaborative Dynamics in the Treatment of Retinoblastoma: A Bibliometric Analysis of Trends and Themes. 视网膜母细胞瘤治疗的进展和合作动态:趋势和主题的文献计量学分析。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-05 DOI: 10.1080/08820538.2025.2584513
Jinying Gao, Peng Huang, Xue Leng, Yibing Zhang

Aim: This study aimed to provide a comprehensive bibliometric analysis of retinoblastoma treatment, assessing publication trends, influential research, and leading contributors.

Methods: The research was conducted using the Web of Science Core Collection, focusing on retinoblastoma treatment from January 1, 1941, to June 13, 2024. Bibliometric analysis were conducted using Microsoft Excel, VOSviewer, CiteSpace, and the Bibliometrics R package.

Results: The analysis identified 5,674 documents. The United States led in research output and citation impact, followed by China and Europe. The University of Toronto was the most prolific institution (488 articles). International collaborations accounted for 18.54% of publications. David H. Abramson was the most prolific author (139 articles), followed closely by C.L. Shields (100 articles). Keyword analysis revealed three major thematic clusters: (1) molecular mechanisms and oncogenesis, (2) cell cycle regulation and experimental models, and (3) clinical management and therapeutic strategies. Recent hotspots included intraarterial chemotherapy, melphalan, treatment resistance, risk stratification, and tumor biology. Retinoblastoma research centers on molecular mechanisms, cell cycle regulation, and clinical management.

Conclusion: Advances in intraarterial chemotherapy, risk assessment, and molecular insights are improving survival and quality of life. Greater emphasis on real-world, multicenter, and international studies is needed to advance personalized care.

目的:本研究旨在提供视网膜母细胞瘤治疗的综合文献计量分析,评估出版趋势、有影响力的研究和主要贡献者。方法:研究使用Web of Science核心馆藏进行,重点关注1941年1月1日至2024年6月13日期间视网膜母细胞瘤的治疗。使用Microsoft Excel、VOSviewer、CiteSpace和bibliometics R软件包进行文献计量学分析。结果:共鉴定出5674份文献。美国在研究产出和引文影响方面领先,其次是中国和欧洲。多伦多大学是发表论文最多的大学(488篇)。国际合作占18.54%。大卫·h·艾布拉姆森(David H. Abramson)是最多产的作者(139篇文章),其次是C.L.希尔兹(100篇文章)。关键词分析揭示了三个主要主题集群:(1)分子机制和肿瘤发生;(2)细胞周期调控和实验模型;(3)临床管理和治疗策略。最近的热点包括动脉化疗、美法兰、治疗耐药性、风险分层和肿瘤生物学。视网膜母细胞瘤的研究主要集中在分子机制、细胞周期调控和临床管理方面。结论:动脉内化疗、风险评估和分子洞察的进展正在改善生存率和生活质量。需要更多地强调现实世界、多中心和国际研究来推进个性化护理。
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引用次数: 0
Recurrent Dacryocystitis After Prolonged Lacrimal Stent Intubation: A Case Series and Literature Review. 长期泪道支架插管后复发性泪囊炎:一个病例系列和文献回顾。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-04 DOI: 10.1080/08820538.2025.2583073
Can Yang, Kerui Wang, Xinyue Yu, Ziwei Meng, Cong Hu, Xinyu Zheng, Jiayi Zhang, Rongxin Chen, Xuanwei Liang

Purpose: To report a case series of recurrent dacryocystitis following long-term lacrimal duct intubation, and to clarify the side effects of long-term lacrimal duct intubation.

Methods: This study retrospectively evaluated 24 adults (27 eyes) who presented to our center between September 2019 and December 2024 with recurrent dacryocystitis following probing and subsequent stent intubation. Data collected included patient demographics, clinical presentation, duration of intubation, stent-related complications, computer tomography image, management strategies, and prognosis. Systematically reviewed randomized controlled trial articles on lacrimal duct intubation.

Results: Several stent-related complications were identified, including: punctal granuloma (11.1%, 3/27), stent fracture (11.1%, 3/27; all three fractured stents were plastic type, with fragments adherent to granulation tissue.), punctal laceration with recurrent extrusion (3.7%, 1/27; gold stent), soft tissue false passages (47.4%, 9/19), and bony false passages (7.4%, 2/27; cases with traumatic lacrimal obstruction). Among patients undergoing dacryocystorhinostomy, functional success was 81.48% (22/27) and anatomical success was 85.19% (23/27). Denominators vary across outcomes due to incomplete data availability for specific variables in the study cohort.

Conclusions: This study emphasizes the importance of standardized operative techniques and appropriate duration of intubation to prevent complications associated with lacrimal stenting.

目的:报告1例长期泪道插管术后复发性泪囊炎的病例,阐明长期泪道插管的不良反应。方法:本研究回顾性评估了2019年9月至2024年12月期间24名成人(27只眼)在探查和支架插管后复发性泪囊炎。收集的数据包括患者人口统计学、临床表现、插管时间、支架相关并发症、计算机断层扫描图像、管理策略和预后。系统回顾泪道插管的随机对照试验文章。结果:发现了几个支架相关并发症,包括:点状肉芽肿(11.1%,3/27)、支架断裂(11.1%,3/27;3个支架断裂均为塑料型,碎片粘附在肉芽组织上)、点状撕裂并反复挤压(3.7%,1/27;金色支架)、软组织假通道(47.4%,9/19)、骨假通道(7.4%,2/27;外伤性泪道梗阻)。泪囊鼻腔吻合术患者功能成功率为81.48%(22/27),解剖成功率为85.19%(23/27)。由于研究队列中特定变量的数据不完整,不同结果的分母不同。结论:本研究强调了标准化的手术技术和适当的插管时间对预防泪道支架置入术并发症的重要性。
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引用次数: 0
In Vitro Efficacy of Miltefosine Against Clinical Isolates of Acanthamoeba spp. from Patients with Keratitis. 米替福辛对角膜炎患者棘阿米巴临床分离株的体外疗效观察。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-01 Epub Date: 2025-02-25 DOI: 10.1080/08820538.2025.2467272
Lakshminarayanan Gowtham, Savitri Sharma, Bhupesh Bagga

Purpose: The US Food and Drug Administration (USFDA) granted the miltefosine orphan drug designation in 2016 for treating Acanthamoeba keratitis. This study evaluates miltefosine's in vitro efficacy against clinical isolates of Acanthamoeba from patients with keratitis and its safety profile in human corneal epithelial cell line to rationalize its localized ocular application.

Methods: Acanthamoeba spp. isolated from corneal scrapings of keratitis patients (n = 17) were cultured axenically, genotyped, and tested for miltefosine's minimal cysticidal and trophozoicidal concentrations (MCC and MTC) by microbroth dilution method. Safer concentrations of miltefosine were determined using human corneal epithelial (HCE) cells at four incubation points. Trophozoites and cysts of one of the isolates, A. castellanii, were challenged on confluent monolayers of HCE in the presence and absence of miltefosine for 24 h. Cytopathic effects were evaluated using microscopic analysis.

Results: The majority of Acanthamoeba isolates tested were T4 genotypes (94.11%). MTC90 and MCC90 of miltefosine were 0.125 and 4 mg/mL, respectively. Miltefosine was found safe on HCE at 0.0625 and 0.125 mg/mL for 4 and 0.25 h, respectively. Microscopical findings showed that A. castellanii trophozoites destroyed the cellular structures of HCE within 24 h without miltefosine. Drug pre-treatment prevented the initiation of infection at both the tested concentrations (0.0625 and 0.125 mg/mL) upto 24 h.

Conclusion: Miltefosine was effective against Acanthamoeba trophozoites and cysts in vitro with >30-fold higher cidal concentration for cysts compared to trophozoites. An effective trophozoicidal concentration of miltefosine (0.125 mg/mL), found to be safe for HCEs, suggests its potential utility as an adjunct treatment for Acanthamoeba keratitis.

目的:美国食品和药物管理局(USFDA)于2016年授予米特福辛孤儿药资格,用于治疗棘阿米巴角膜炎。本研究评估了米替福辛对角膜炎患者棘阿米巴临床分离株的体外疗效及其在人角膜上皮细胞系中的安全性,以合理化其局部眼部应用。方法:对17例角膜炎患者角膜刮屑中分离的棘阿米巴进行无性培养、基因分型,并采用微肉汤稀释法检测米替福辛的最小囊泡杀虫和滋养虫杀虫浓度(MCC和MTC)。在四个孵育点使用人角膜上皮细胞(HCE)来确定米替福辛的安全浓度。将其中一株A. castellanii的滋养体和囊泡分别在米地膦存在和不存在的情况下作用于HCE的融合单层上24小时。通过显微镜分析评估细胞病变效应。结果:分离的棘阿米巴以T4基因型居多(94.11%)。米替福辛的MTC90和MCC90分别为0.125和4 mg/mL。米替福辛分别在0.0625和0.125 mg/mL剂量下对HCE安全作用4和0.25 h。显微镜观察结果表明,在不含米特氟辛的情况下,沙蚤滋养体在24 h内破坏了HCE的细胞结构。结论:米替福辛对棘阿米巴滋养体和囊泡均有较好的体外杀灭效果,且对囊泡的杀灭浓度比滋养体高30倍。米替福辛的有效杀滋养虫浓度(0.125 mg/mL)对hce是安全的,表明其作为棘阿米巴角膜炎辅助治疗的潜在效用。
{"title":"<i>In Vitro</i> Efficacy of Miltefosine Against Clinical Isolates of <i>Acanthamoeba</i> spp. from Patients with Keratitis.","authors":"Lakshminarayanan Gowtham, Savitri Sharma, Bhupesh Bagga","doi":"10.1080/08820538.2025.2467272","DOIUrl":"10.1080/08820538.2025.2467272","url":null,"abstract":"<p><strong>Purpose: </strong>The US Food and Drug Administration (USFDA) granted the miltefosine orphan drug designation in 2016 for treating <i>Acanthamoeba</i> keratitis. This study evaluates miltefosine's <i>in vitro</i> efficacy against clinical isolates of <i>Acanthamoeba</i> from patients with keratitis and its safety profile in human corneal epithelial cell line to rationalize its localized ocular application.</p><p><strong>Methods: </strong><i>Acanthamoeba</i> spp. isolated from corneal scrapings of keratitis patients (<i>n</i> = 17) were cultured axenically, genotyped, and tested for miltefosine's minimal cysticidal and trophozoicidal concentrations (MCC and MTC) by microbroth dilution method. Safer concentrations of miltefosine were determined using human corneal epithelial (HCE) cells at four incubation points. Trophozoites and cysts of one of the isolates, <i>A. castellanii</i>, were challenged on confluent monolayers of HCE in the presence and absence of miltefosine for 24 h. Cytopathic effects were evaluated using microscopic analysis.</p><p><strong>Results: </strong>The majority of <i>Acanthamoeba</i> isolates tested were T4 genotypes (94.11%). MTC<sub>90</sub> and MCC<sub>90</sub> of miltefosine were 0.125 and 4 mg/mL, respectively. Miltefosine was found safe on HCE at 0.0625 and 0.125 mg/mL for 4 and 0.25 h, respectively. Microscopical findings showed that <i>A. castellanii</i> trophozoites destroyed the cellular structures of HCE within 24 h without miltefosine. Drug pre-treatment prevented the initiation of infection at both the tested concentrations (0.0625 and 0.125 mg/mL) upto 24 h.</p><p><strong>Conclusion: </strong>Miltefosine was effective against <i>Acanthamoeba</i> trophozoites and cysts <i>in vitro</i> with >30-fold higher cidal concentration for cysts compared to trophozoites. An effective trophozoicidal concentration of miltefosine (0.125 mg/mL), found to be safe for HCEs, suggests its potential utility as an adjunct treatment for <i>Acanthamoeba</i> keratitis.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"767-774"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143503857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lacrimal History - Part 19: Doyens of Dacryology Series - René-Jacques Croissant de Garengeot (1688-1759) and His 1723 Treatise, 'Traité des Operations de Chirurgie'. 泪史-第19部分:泪学系列- renvac - jacques Croissant de Garengeot(1688-1759)和他1723年的论文,‘泪术的trait<s:1> des operation de Chirurgie’
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-01 Epub Date: 2025-06-20 DOI: 10.1080/08820538.2025.2521942
Mohammad Javed Ali
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引用次数: 0
Susac Syndrome: A Multidisciplinary Approach to Diagnosis and Management with an Emphasis on Ophthalmic Involvement. 苏萨克综合征:多学科诊断和管理方法,重点关注眼部受累情况。
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-01 Epub Date: 2024-11-22 DOI: 10.1080/08820538.2024.2432904
Oliwia Kamieniecka

Background: Susac syndrome is a rare autoimmune microangiopathy that affects the small vessels of the retina, brain, and inner ear, leading to a characteristic triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. The syndrome often presents diagnostic challenges due to its overlapping symptoms with other conditions. Immunosuppressive therapies remain the cornerstone of treatment.

Methods: A retrospective review of the literature from PubMed (1998-2024).

Results: Special emphasis is placed on the role of ophthalmologists, who play a pivotal role in the diagnostic process. This article provides a comprehensive overview of the disease, focusing on the pathogenesis, clinical presentation, diagnostic process, and treatment approaches.

Conclusion: By highlighting the role of ophthalmologists in recognizing and managing Susac Syndrome, this review underscores the importance of a multidisciplinary approach to improve outcomes in this complex, multisystem disease.

背景:苏萨克综合征是一种罕见的自身免疫性微血管病:苏萨克综合征是一种罕见的自身免疫性微血管病,影响视网膜、大脑和内耳的小血管,导致脑病、视网膜分支动脉闭塞和感音神经性听力损失的特征性三联征。由于该综合征的症状与其他疾病重叠,因此在诊断上往往存在困难。免疫抑制疗法仍是治疗的基石:方法:对 PubMed(1998-2024 年)上的文献进行回顾性研究:结果:特别强调了眼科医生的作用,他们在诊断过程中发挥着关键作用。本文全面概述了该疾病,重点介绍了发病机制、临床表现、诊断过程和治疗方法:通过强调眼科医生在识别和管理苏萨克综合征中的作用,这篇综述强调了多学科方法对改善这种复杂的多系统疾病的治疗效果的重要性。
{"title":"Susac Syndrome: A Multidisciplinary Approach to Diagnosis and Management with an Emphasis on Ophthalmic Involvement.","authors":"Oliwia Kamieniecka","doi":"10.1080/08820538.2024.2432904","DOIUrl":"10.1080/08820538.2024.2432904","url":null,"abstract":"<p><strong>Background: </strong>Susac syndrome is a rare autoimmune microangiopathy that affects the small vessels of the retina, brain, and inner ear, leading to a characteristic triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. The syndrome often presents diagnostic challenges due to its overlapping symptoms with other conditions. Immunosuppressive therapies remain the cornerstone of treatment.</p><p><strong>Methods: </strong>A retrospective review of the literature from PubMed (1998-2024).</p><p><strong>Results: </strong>Special emphasis is placed on the role of ophthalmologists, who play a pivotal role in the diagnostic process. This article provides a comprehensive overview of the disease, focusing on the pathogenesis, clinical presentation, diagnostic process, and treatment approaches.</p><p><strong>Conclusion: </strong>By highlighting the role of ophthalmologists in recognizing and managing Susac Syndrome, this review underscores the importance of a multidisciplinary approach to improve outcomes in this complex, multisystem disease.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"727-732"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incidence and Management of Retinopathy and Uveitis in Patients Receiving BRAF/MEK Inhibitor Therapy. 接受BRAF/MEK抑制剂治疗的患者视网膜病变和葡萄膜炎的发病率和管理
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-01 Epub Date: 2025-02-24 DOI: 10.1080/08820538.2025.2468381
Isana Nakajima, Koji Yoshino, Hideki Tsuji

Purpose: To assess the clinical features of ocular adverse events in patients receiving BRAF/MEK inhibitor therapy.

Methods: In this retrospective study, 65 patients were treated with BRAF/MEK inhibitors (dabrafenib/trametinib or encorafenib/binimetinib).

Results: Of the 65 patients, 28 had malignant melanoma and 37 had non-melanoma malignancies. Bilateral MEK-associated retinopathy was observed in nine cases; none experienced vision loss due to MEK-associated retinopathy. Uveitis was diagnosed in four patients (6.1%), three of whom presented with Vogt-Koyanagi-Harada (VKH)-like uveitis. All VKH-like uveitis cases were observed in patients with melanoma and their incidences were significantly higher in these patients than in those without melanoma (p = .04). Treatment with corticosteroids resulted in either resolution or control of symptoms in all cases of VKH-like uveitis, enabling continuation of BRAF/MEK inhibitor therapy.

Conclusion: VKH-like uveitis was found to be significantly more frequent in patients with melanoma than in those with other malignancies.

目的:评价BRAF/MEK抑制剂治疗患者眼部不良事件的临床特点。方法:在这项回顾性研究中,65例患者接受BRAF/MEK抑制剂(dabrafenib/trametinib或encorafenib/binimetinib)治疗。结果:65例患者中,恶性黑色素瘤28例,非黑色素瘤37例。双侧mek相关视网膜病变9例;没有人因mek相关视网膜病变而出现视力丧失。4例(6.1%)患者被诊断为葡萄膜炎,其中3例表现为Vogt-Koyanagi-Harada (VKH)样葡萄膜炎。所有vkh样葡萄膜炎均发生在黑色素瘤患者中,其发病率明显高于无黑色素瘤患者(p = 0.04)。在所有vkh样葡萄膜炎病例中,皮质类固醇治疗均可缓解或控制症状,从而使BRAF/MEK抑制剂治疗得以继续。结论:vkh样葡萄膜炎在黑色素瘤患者中的发生率明显高于其他恶性肿瘤患者。
{"title":"Incidence and Management of Retinopathy and Uveitis in Patients Receiving BRAF/MEK Inhibitor Therapy.","authors":"Isana Nakajima, Koji Yoshino, Hideki Tsuji","doi":"10.1080/08820538.2025.2468381","DOIUrl":"10.1080/08820538.2025.2468381","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the clinical features of ocular adverse events in patients receiving BRAF/MEK inhibitor therapy.</p><p><strong>Methods: </strong>In this retrospective study, 65 patients were treated with BRAF/MEK inhibitors (dabrafenib/trametinib or encorafenib/binimetinib).</p><p><strong>Results: </strong>Of the 65 patients, 28 had malignant melanoma and 37 had non-melanoma malignancies. Bilateral MEK-associated retinopathy was observed in nine cases; none experienced vision loss due to MEK-associated retinopathy. Uveitis was diagnosed in four patients (6.1%), three of whom presented with Vogt-Koyanagi-Harada (VKH)-like uveitis. All VKH-like uveitis cases were observed in patients with melanoma and their incidences were significantly higher in these patients than in those without melanoma (<i>p</i> = .04). Treatment with corticosteroids resulted in either resolution or control of symptoms in all cases of VKH-like uveitis, enabling continuation of BRAF/MEK inhibitor therapy.</p><p><strong>Conclusion: </strong>VKH-like uveitis was found to be significantly more frequent in patients with melanoma than in those with other malignancies.</p>","PeriodicalId":21702,"journal":{"name":"Seminars in Ophthalmology","volume":" ","pages":"775-781"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Potential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma. 先天性青光眼前段发育异常相关基因的潜在作用
IF 2.3 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2025-11-01 Epub Date: 2024-12-09 DOI: 10.1080/08820538.2024.2435944
Goutham Pyatla, Samir Bera, Ashish Mishra, Anil K Mandal, Subhabrata Chakrabarti

Background: The anterior segment of the eye plays a crucial role in maintaining the normal intraocular pressure and vision. Developmental defects in the anterior segment structures lead to anterior segment dysgenesis (ASD) and primary congenital glaucoma (PCG), which share overlapping clinical features. Several genes have been mapped and characterized in ASD, some of which are also involved in other glaucoma phenotypes. PCG exhibits genetic heterogeneity like ASD, but the known genes do not account for the entire genetic basis of the disease. Considering the significant phenotypic and genotypic overlap between ASD and PCG, this article explores the possible involvements of ASD-associated genes in PCG pathogenesis.

Methods: A nonsystematic search in PubMed was performed using various combinations of keywords related to ASD, glaucoma, genetics, and molecular mechanisms, and articles published up until March 2024 were considered. Specifically, information pertaining to ASD-associated genes (FBN1, FOXE3, HMX1, LMX1B, MAF, OTX2, PAX6, PITX2, PITX3, PRDM5, PRSS56, RAX, SLC4A11, SOX2, TRIM44, VAX1, and WT1) was extracted, and their expressions were determined from the GTEx and EMBL-EBI Expression Atlas. Interactions of these genes were determined through the Ingenuity Pathway Analysis software.

Results: Most of the ASD-associated genes were found to be highly expressed in the early embryonic stages. Interactome analysis revealed that TRIM44, PAX6, WT1, SOX2, OTX2, PRDM5, and FBN1 interacted through the NFκB and Akt/PI3K pathways, either directly, or through interactions with other partners. FOXC1, PITX2, and HMX1 interacted through Wnt and Hedgehog signaling pathways. Both ASD and PCG present similar clinical features and harbor mutations in genes that are implicated in both these conditions. Collectively, we constructed a hypothetical model and proposed two parallel mechanisms comprising the defects in the anterior chamber angle and cell death in PCG pathogenesis.

Conclusions: Our findings suggest that complex interplay of these ASD-associated genes and their interactions could potentially result in defects in the anterior chamber angle and trabecular meshwork and induce cell death, resulting in PCG pathogenesis.

背景:眼前段在维持正常眼压和视力方面起着至关重要的作用。前节结构发育缺陷导致前节发育不良(ASD)和原发性先天性青光眼(PCG),两者具有重叠的临床特征。一些基因已经在ASD中被定位和表征,其中一些也与其他青光眼表型有关。PCG与ASD一样具有遗传异质性,但已知的基因并不能解释该疾病的全部遗传基础。考虑到ASD和PCG之间存在显著的表型和基因型重叠,本文探讨了ASD相关基因在PCG发病中的可能参与。方法:在PubMed中使用与ASD、青光眼、遗传学和分子机制相关的各种关键词组合进行非系统搜索,并考虑到2024年3月之前发表的文章。具体而言,提取asd相关基因(FBN1、FOXE3、HMX1、LMX1B、MAF、OTX2、PAX6、PITX2、PITX3、PRDM5、PRSS56、RAX、SLC4A11、SOX2、TRIM44、VAX1和WT1)的信息,并从GTEx和EMBL-EBI表达图谱中测定其表达。通过匠心途径分析软件确定这些基因的相互作用。结果:大多数asd相关基因在胚胎早期高表达。相互作用组分析显示,TRIM44、PAX6、WT1、SOX2、OTX2、PRDM5和FBN1通过NFκB和Akt/PI3K通路直接或通过与其他伙伴的相互作用相互作用。FOXC1、PITX2和HMX1通过Wnt和Hedgehog信号通路相互作用。ASD和PCG都表现出相似的临床特征,并且在涉及这两种情况的基因中存在突变。总之,我们构建了一个假设模型,提出了PCG发病机制中前房角缺陷和细胞死亡两种平行机制。结论:我们的研究结果提示,这些asd相关基因的复杂相互作用及其相互作用可能导致前房角和小梁网缺陷并诱导细胞死亡,从而导致PCG发病。
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引用次数: 0
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Seminars in Ophthalmology
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