Progress in Retinal and Eye Research最新文献_第5页

Immunomodulatory therapy in non-infectious Uveitis: Current landscape, gaps, and future directions 非感染性葡萄膜炎的免疫调节治疗：现状、差距和未来方向

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-21 DOI: 10.1016/j.preteyeres.2025.101380

Rupesh Agrawal , Yun Yao Goh , William Rojas-Carabali , Carlos Cifuentes-González , Sanjay Srinivasan , Bernard Yu-Hor Thong , Alejandra de-la-Torre , Cesar Michael Samson , Jyotirmay Biswas , Robert Patrick Finger , John H. Kempen

Non-infectious uveitis (NIU) is a potentially sight-threatening intraocular inflammatory condition that may arise idiopathically or in association with systemic immune-mediated diseases. While corticosteroids remain essential for rapid suppression of inflammation, their long-term use is limited by significant systemic and ocular side effects. Thus, immunomodulatory therapy (IMT)—including antimetabolites, calcineurin inhibitors, biologics, and emerging small molecules—has become central to achieving sustained control with a reduced corticosteroid burden in chronic cases.

Despite a range of therapeutic options, significant challenges persist. Safe, remission-inducing treatments remain elusive; tapering strategies are poorly standardized; and evidence for optimal combinations or long-term outcomes remains limited. Recent registries, such as Programme for Ocular Inflammation and Infection Translational Research (PROTON) and Treatment Exit Options for Uveitis (TOFU), are beginning to address the unmet need for structured treatment exit frameworks. Moreover, advances in imaging and artificial intelligence may soon enable real-time monitoring of disease status and risk stratification, although the development of large, well-annotated cohorts to be subject to such analysis remains a key hurdle.

This review summarizes the current role of IMT in the management of NIU, with an emphasis on corticosteroid-sparing strategies. We highlight the use of conventional immunosuppressants—including antimetabolites, calcineurin inhibitors, and alkylating agents—as well as newer biologic, smallmolecule, and interferon-based therapies. We outline where IMT fits within the broader treatment algorithm, discuss emerging evidence for earlier initiation, and explore future directions in targeted and personalized immunotherapy. We also explore future directions, including personalized approaches, biomarker-driven therapy, and the promise of AI-guided prediction models.

非感染性葡萄膜炎（NIU）是一种潜在威胁视力的眼内炎症，可能是特发性的，也可能与全身性免疫介导的疾病有关。虽然皮质类固醇对于快速抑制炎症仍然是必不可少的，但它们的长期使用受到严重的全身和眼部副作用的限制。因此，免疫调节疗法（IMT）——包括抗代谢物、钙调磷酸酶抑制剂、生物制剂和新出现的小分子药物——已成为减轻慢性病例皮质类固醇负担并实现持续控制的核心。

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引用次数: 0

Widefield OCT angiography 广角OCT血管造影

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-13 DOI: 10.1016/j.preteyeres.2025.101378

Yali Jia , Tristan T. Hormel , Thomas S. Hwang , An-Lun Wu , Guangru B. Liang , Yukun Guo , Xiang Wei , Shuibin Ni , Yifan Jian , J. Peter Campbell , Steven T. Bailey , John C. Morrison , David Huang

Optical coherence tomography angiography (OCTA) is a volumetric, non-invasive, high-resolution vascular imaging modality capable of acquiring highly detailed visualizations of retinal microvasculature. It has become an important tool for diagnosis and prognosis in prevalent diseases and pathologies such as diabetic retinopathy, retinopathy of prematurity, and vein occlusions, as well as more rare conditions, including inherited retinal dystrophies. It is also useful for measuring treatment response and assessing which patients would benefit from treatment. Unlike dye-based angiography, OCTA eliminates risks such as anaphylaxis. It also often outperforms fundus photography in feature detection. However, conventional OCTA imaging has been limited by its small field of view, which restricts simultaneous visualization of the posterior pole and peripheral retina, causing single images to potentially miss widely spaced critical biomarkers and pathological features. Recent technological advances in widefield OCTA have addressed this limitation, extending the field of view to the mid-periphery and beyond. This breakthrough enhances the simultaneous detection of macular and peripheral retinal pathology and significantly broadens OCTA's diagnostic and research applications. This review explores the technical innovations enabling widefield OCTA and highlights its clinical utility across various conditions, emphasizing its growing importance as a powerful tool in ophthalmic practice and research.

光学相干断层血管造影（OCTA）是一种体积、非侵入性、高分辨率的血管成像方式，能够获得视网膜微血管的高度详细的可视化。它已成为糖尿病视网膜病变、早产儿视网膜病变、静脉闭塞等流行疾病和病理以及遗传性视网膜营养不良等更罕见疾病的诊断和预后的重要工具。它还有助于衡量治疗反应和评估哪些患者将从治疗中受益。与染料血管造影不同，OCTA消除了过敏反应等风险。在特征检测方面，它也经常优于眼底摄影。然而，传统的OCTA成像受到其小视野的限制，这限制了后极和周围视网膜的同时可视化，导致单个图像可能错过间隔广泛的关键生物标志物和病理特征。宽视场OCTA的最新技术进步已经解决了这一限制，将视野扩展到中边缘和更远的地方。这一突破增强了对黄斑和周围视网膜病理的同时检测，并显著拓宽了OCTA的诊断和研究应用。这篇综述探讨了实现宽视场OCTA的技术创新，并强调了它在各种情况下的临床应用，强调了它在眼科实践和研究中作为一种强大工具的重要性。

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引用次数: 0

Understanding glaucoma as astrocyte-driven neurodegeneration in the optic nerve head: an integrative clinicopathological perspective 理解青光眼作为视神经头星形细胞驱动的神经变性：一个综合的临床病理观点

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-13 DOI: 10.1016/j.preteyeres.2025.101379

Eun Jung Lee , Do Young Park , Jong Chul Han , Changwon Kee

Glaucoma is characterized by the progressive loss of retinal ganglion cells (RGCs), primarily driven by axonal degeneration within the optic nerve head (ONH). Recent advances in neurodegeneration and neuroinflammation research have opened new astrocyte-centered perspectives on glaucoma pathogenesis. Critical evaluation of emerging evidence suggests that ONH astrocyte changes may serve as the primary driver of pathogenesis, with loss of astrocytic support playing a substantial role. Evidence from experimental glaucoma models reveals that early intraocular pressure (IOP)-induced remodeling of the ONH astrocyte network precedes RGC axonal damage, potentially mediated by impaired astrocytic control of electrophysiological homeostasis within the surrounding extracellular space. Furthermore, the heterogeneous glia-neuron ratio (GNR) across the normal human ONH lamina cribrosa exhibits an inverse topographic association with the spatiotemporal pattern of regional vulnerability observed clinically in glaucoma, suggesting that regional variations in the astrocyte-to-neuron ratio, reflecting astrocytic support reserve, may critically determine local tissue susceptibility to glaucomatous stress. Recent optical coherence tomography–based insights into the regional vulnerability in human glaucoma are discussed. This clinicopathological interpretation may offer a comprehensive framework that coherently integrates diverse neurodegenerative mechanisms into a unified clinical entity, bridge the conventional mechanical and ischemic theories of glaucoma by highlighting astrocyte changes as a common primary target of risk factors, and ultimately redefine glaucoma as astrocyte-driven neurodegeneration in the biomechanically and bioenergetically vulnerable ONH.

青光眼的特点是视网膜神经节细胞（RGCs）的进行性丧失，主要是由视神经头（ONH）内的轴突变性引起的。神经变性和神经炎症研究的最新进展为以星形胶质细胞为中心的青光眼发病机制开辟了新的视角。对新证据的批判性评估表明，ONH星形胶质细胞的变化可能是发病机制的主要驱动因素，星形胶质细胞支持的丧失起着重要作用。来自青光眼实验模型的证据表明，早期眼压（IOP）诱导的ONH星形胶质细胞网络重塑先于RGC轴突损伤，可能是由周围细胞外空间星形胶质细胞对电生理稳态的控制受损介导的。此外，在青光眼临床观察中，正常人ONH网层的异质胶质-神经元比率（GNR）与区域易感性时空模式呈负相关，表明星形细胞-神经元比率的区域差异反映了星形细胞支持储备，可能在很大程度上决定了局部组织对青光眼应激的易感性。最近的光学相干断层扫描为基础的见解，在人类青光眼的区域脆弱性进行了讨论。这种临床病理解释可能提供一个全面的框架，将多种神经退行性机制整合到一个统一的临床实体中，通过突出星形细胞变化作为危险因素的共同主要目标，将青光眼的传统力学和缺血性理论联系起来，并最终将青光眼重新定义为生物力学和生物能量易感的ONH中星形细胞驱动的神经退行性变。

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引用次数: 0

Shining light on CRISPR/Cas9 therapeutics for inherited retinal diseases CRISPR/Cas9治疗遗传性视网膜疾病

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-06 DOI: 10.1016/j.preteyeres.2025.101376

A.B. Geiger , J.G. Kennedy , L.G. Staker , T.G. Wensel , R.J. Casson , P.Q. Thomas

Inherited retinal diseases (IRDs), such as retinitis pigmentosa, are a heterogenous group of genetic eye diseases characterized by degeneration of photoreceptors. They are the leading cause of blindness in the working age population in high-income countries and are an ideal target for the expanding gene editing tool kit, including rapidly evolving CRISPR/Cas9 technology. In this review, we provide a comprehensive analysis of CRISPR/Cas9 technologies currently being explored as therapeutic interventions for IRDs. Given the challenges posed by the growing complexity and size of gene editing systems, the delivery of these therapeutics to the retina has necessitated innovative approaches. We review current delivery methods, including nanoparticles, virus-like particles and traditional viral vectors, highlighting their advantages and limitations. This review underscores the potential transformative impact of gene editing on genetic disease management, emphasising that advancements in these technologies, coupled with improved pre-clinical models, bring clinically safe and effective treatments for IRDs within view.

遗传性视网膜疾病（IRDs），如色素性视网膜炎，是一类以光感受器变性为特征的异质性遗传性眼病。它们是高收入国家工作年龄人口失明的主要原因，也是不断扩大的基因编辑工具包（包括快速发展的CRISPR/Cas9技术）的理想目标。在这篇综述中，我们全面分析了目前正在探索的CRISPR/Cas9技术作为IRDs的治疗干预措施。考虑到基因编辑系统日益复杂和庞大所带来的挑战，将这些治疗方法输送到视网膜需要创新的方法。我们回顾了目前的递送方法，包括纳米颗粒、病毒样颗粒和传统的病毒载体，并强调了它们的优点和局限性。这篇综述强调了基因编辑对遗传病管理的潜在变革性影响，强调了这些技术的进步，加上改进的临床前模型，为ird带来了临床安全和有效的治疗方法。

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引用次数: 0

Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy 解开CYP4V2: Bietti晶体角膜视网膜营养不良的临床特征、遗传见解、致病机制和治疗策略

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-05 DOI: 10.1016/j.preteyeres.2025.101377

Ruixuan Jia , Shaohong Chen , Wang Li , Jinlu Zhang , Baoyuan Qu , Jing Qiao , Xiang Meng , Shicheng Yu , Xiaozhen Liu , Boling Xu , Tianjin Chen , Xiuping Shen , Wenmin Sun , Hongliang Dou , Vinit B. Mahajan , Qiongjiong Zhang , Liping Yang

Inherited retinal dystrophies (IRDs) comprise a spectrum of disease phenotypes with genetic heterogeneity and clinical phenotypic diversity. Bietti crystalline corneoretinal dystrophy (BCD) represents a distinct IRD subtype characterized by crystalline deposits in the retina. Although rare in Western populations, BCD ranks among the most prevalent IRDs in East Asia, affecting an estimated 124,000 to 377,000 individuals worldwide. As a severe type of IRD, BCD demonstrates accelerated progression and currently lacks effective treatment. The BCD disease is caused by a biallelic mutation in the CYP4V2 gene. With a coding sequence (CDS) of 1,578 bp, CYP4V2 can be effectively encapsulated into adeno-associated virus (AAV) vectors. As a hydroxylase, CYP4V2 is mainly expressed in retinal pigment epithelial (RPE) cells, which can be transduced by AAVs and are suitable for gene augmentation therapy that replaces the function of mutant proteins. Given the large patient population, severe visual impairment, and feasibility of gene therapy, several research groups are interested in developing gene therapy products for BCD, and two products entering Phase III clinical trials have made significant progress. This review outlines the clinical features, genetic insights and pathogenic mechanisms of BCD and discusses the ongoing gene therapy clinical trials, including efficacy and concerns. This knowledge will help us bridge the gap between molecular studies and clinical treatments, facilitating translation from bench to bedside. We believe that advancements in BCD gene therapy will inform the treatment of other IRDs.

遗传性视网膜营养不良症（IRDs）包括一系列具有遗传异质性和临床表型多样性的疾病表型。Bietti结晶性角膜视网膜营养不良（BCD）是一种独特的IRD亚型，其特征是视网膜中的结晶沉积。虽然在西方人群中很少见，但BCD是东亚最常见的鸟类之一，全球估计有12.4万至37.7万人受到影响。作为一种严重的IRD类型，BCD表现出加速进展，目前缺乏有效的治疗方法。BCD疾病是由CYP4V2基因的双等位基因突变引起的。CYP4V2编码序列（CDS）为1578 bp，可以有效地封装到腺相关病毒（AAV）载体中。CYP4V2作为一种羟化酶，主要表达于视网膜色素上皮（RPE）细胞中，可被aav转导，适用于替代突变蛋白功能的基因增强治疗。鉴于BCD患者群体大、视力障碍严重以及基因治疗的可行性，多个研究小组对开发BCD基因治疗产品感兴趣，有两个产品已进入III期临床试验，取得了重大进展。本文综述了BCD的临床特点、遗传学见解和致病机制，并讨论了正在进行的基因治疗临床试验，包括疗效和关注的问题。这些知识将帮助我们弥合分子研究和临床治疗之间的差距，促进从实验室到床边的转化。我们相信BCD基因治疗的进展将为其他ird的治疗提供参考。

{"title":"Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy","authors":"Ruixuan Jia , Shaohong Chen , Wang Li , Jinlu Zhang , Baoyuan Qu , Jing Qiao , Xiang Meng , Shicheng Yu , Xiaozhen Liu , Boling Xu , Tianjin Chen , Xiuping Shen , Wenmin Sun , Hongliang Dou , Vinit B. Mahajan , Qiongjiong Zhang , Liping Yang","doi":"10.1016/j.preteyeres.2025.101377","DOIUrl":"10.1016/j.preteyeres.2025.101377","url":null,"abstract":"<div><div>Inherited retinal dystrophies (IRDs) comprise a spectrum of disease phenotypes with genetic heterogeneity and clinical phenotypic diversity. Bietti crystalline corneoretinal dystrophy (BCD) represents a distinct IRD subtype characterized by crystalline deposits in the retina. Although rare in Western populations, BCD ranks among the most prevalent IRDs in East Asia, affecting an estimated 124,000 to 377,000 individuals worldwide. As a severe type of IRD, BCD demonstrates accelerated progression and currently lacks effective treatment. The BCD disease is caused by a biallelic mutation in the <em>CYP4V2</em> gene. With a coding sequence (CDS) of 1,578 bp, <em>CYP4V2</em> can be effectively encapsulated into adeno-associated virus (AAV) vectors. As a hydroxylase, CYP4V2 is mainly expressed in retinal pigment epithelial (RPE) cells, which can be transduced by AAVs and are suitable for gene augmentation therapy that replaces the function of mutant proteins. Given the large patient population, severe visual impairment, and feasibility of gene therapy, several research groups are interested in developing gene therapy products for BCD, and two products entering Phase III clinical trials have made significant progress. This review outlines the clinical features, genetic insights and pathogenic mechanisms of BCD and discusses the ongoing gene therapy clinical trials, including efficacy and concerns. This knowledge will help us bridge the gap between molecular studies and clinical treatments, facilitating translation from bench to bedside. We believe that advancements in BCD gene therapy will inform the treatment of other IRDs.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"107 ","pages":"Article 101377"},"PeriodicalIF":18.6,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144242655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Artificial intelligence in ophthalmology: Progress, challenges, and ethical implications 人工智能在眼科应用的监管问题和挑战：未来是什么？

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-06-03 DOI: 10.1016/j.preteyeres.2025.101374

Maria Cristina Savastano , Clara Rizzo , Claudia Fossataro , Daniela Bacherini , Fabrizio Giansanti , Alfonso Savastano , Giovanni Arcuri , Stanislao Rizzo , Francesco Faraldi

The adoption of artificial intelligence (AI) in ophthalmology holds great promise for improving diagnostic accuracy, optimizing workflows, and enhancing patient care. However, regulatory, ethical, and technical challenges must be addressed to ensure its safe and effective implementation. Bias in AI can lead to disparities in healthcare delivery, while the “black-box problem” raises concerns about transparency and trust. Ethical principles must guide AI integration, particularly regarding patient safety, accountability, and liability. Privacy risks related to data collection and security are especially critical in ophthalmology, where large imaging datasets are essential. Additionally, AI-generated inaccuracies, or “hallucinations,” pose potential risks to clinical decision-making. Cybersecurity threats targeting AI-powered healthcare systems further emphasize the need for robust protections. Despite these challenges, AI has the potential to improve access to ophthalmic care, particularly in underserved regions, as seen in AI-assisted diabetic retinopathy screening. However, financial and infrastructural barriers remain significant obstacles to widespread adoption. Addressing these issues requires collaboration among stakeholders, including regulators, healthcare providers, AI developers, and policymakers, to establish clear guidelines and promote trustworthy AI systems. This review explores key regulatory and ethical concerns and highlights strategies to ensure the responsible integration of AI into ophthalmology.

人工智能（AI）在眼科中的应用对提高诊断准确性、优化工作流程和加强患者护理有着巨大的希望。然而，必须解决监管、道德和技术方面的挑战，以确保其安全有效地实施。人工智能的偏见可能导致医疗保健服务的差异，而“黑箱问题”引发了对透明度和信任的担忧。人工智能整合必须遵循伦理原则，特别是在患者安全、问责制和责任方面。与数据收集和安全相关的隐私风险在眼科中尤为重要，因为大型成像数据集是必不可少的。此外，人工智能产生的不准确性，或“幻觉”，对临床决策构成潜在风险。针对人工智能医疗系统的网络安全威胁进一步强调了对强大保护的需求。尽管存在这些挑战，人工智能仍有可能改善眼科护理的可及性，特别是在服务不足的地区，正如人工智能辅助糖尿病视网膜病变筛查所见。然而，财政和基础设施障碍仍然是广泛采用的重大障碍。解决这些问题需要包括监管机构、医疗保健提供者、人工智能开发人员和政策制定者在内的利益相关者之间的合作，以建立明确的指导方针并促进值得信赖的人工智能系统。本综述探讨了关键的监管和伦理问题，并强调了确保人工智能与眼科负责任地整合的策略。

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引用次数: 0

Pericytes in the optic nerve head 视神经头的周细胞。

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-05-29 DOI: 10.1016/j.preteyeres.2025.101375

Susannah Waxman , Deborah Villafranca-Baughman , Julie Phillippi , Tatjana C. Jakobs , Luis Alarcon-Martinez , Adriana Di Polo , Ian A. Sigal

Pericytes are a unique population of contractile mural cells and are an essential part of the microvasculature. In the retina and brain, pericytes play crucial roles in regulating blood flow, maintaining the blood-brain barrier, signaling with neighboring cells, and depositing extracellular matrix. Pericyte dysfunction is an early process in a variety of neurodegenerative conditions. However, remarkably little is known about pericytes at an early site of neurodegeneration in glaucoma, the optic nerve head (ONH). This work summarizes the current understanding of pericyte contributions to ONH physiology, identifies potential roles in glaucomatous pathophysiology, and uncovers open questions at the intersection of these areas. We surveyed the literature to identify the roles of ONH pericytes in the context of health and glaucoma. Additionally, we probed for the presence of pericytes along microvasculature in mouse, nonhuman primate, and human donor ONH tissues. We identified an association between factors influencing ONH dysfunction in glaucoma and factors influencing pericyte dysfunction in other neurodegenerative conditions. Pericytes exist in the mouse, nonhuman primate, and human ONH, implicating their capacity for local function. ONH pericytes represent a promising but underexplored target for treating microvascular impairment in glaucoma. Investigating the contribution of pericytes in both healthy and disease states can help inform mechanisms of dysfunction in glaucomatous pathology, paving the way for the development of novel therapeutic strategies.

周细胞是一种独特的可收缩壁细胞群，是微血管系统的重要组成部分。在视网膜和大脑中，周细胞在调节血流、维持血脑屏障、与邻近细胞传递信号和沉积细胞外基质等方面起着至关重要的作用。周细胞功能障碍是各种神经退行性疾病的早期过程。然而，对于青光眼神经退行性变的早期部位——视神经头（ONH）的周细胞，我们所知甚少。这项工作总结了目前对周细胞对ONH生理的贡献的理解，确定了青光眼病理生理的潜在作用，并揭示了这些领域交叉的开放性问题。我们调查了文献，以确定ONH周细胞在健康和青光眼的背景下的作用。此外，我们在小鼠、非人灵长类动物和人类ONH供体组织中检测了微血管周围细胞的存在。我们发现影响青光眼ONH功能障碍的因素与影响其他神经退行性疾病周细胞功能障碍的因素之间存在关联。周细胞存在于小鼠、非人灵长类动物和人类ONH中，暗示它们具有局部功能的能力。ONH周细胞是治疗青光眼微血管损伤的一个有希望但尚未开发的靶点。研究周细胞在健康和疾病状态下的作用可以帮助了解青光眼病理功能障碍的机制，为开发新的治疗策略铺平道路。

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引用次数: 0

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes 先天性白内障的遗传结构：致病变异与形态学和临床结果的相关性。

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-05-29 DOI: 10.1016/j.preteyeres.2025.101373

Dongwei Guo , Yi Jiang , Yuxi Zheng , Shiqiang Li , Guangming Jin , Xueshan Xiao , Xiaoyun Jia , Wenmin Sun , Danying Zheng , James Fielding Hejtmancik , Qingjiong Zhang

Congenital cataract (CC) refers to lens opacity presented at birth, posing considerable challenges to early childhood visual development and lifelong visual impairment. Although a substantial proportion of CC cases arise from genetic defects, significant gaps remain in the understanding of the genotype-phenotype correlations and the characteristics of potentially pathogenic variants associated with this condition. In the current study, the genetic architecture of CC was investigated by a comparative literature review of 39 known CC-associated genes from Cat-map and HGMD, within an in-house cohort of 150 CC families, complemented by comparing with in-house exome sequencing data from 10,530 families with various eye conditions as well as data from the gnomAD database. Comparative analysis revealed: 1) The in-house genetic diagnostic yield was 63.3% (95/150); 2) Variants in specific genes were correlated with distinct phenotypes, especially for variants in BFSP2, MIP, GJA3, PITX3 and CRYGD; 3) GJA3 variants were often associated with high myopia, and CRYGC variants were often linked to microcornea or microphthalmia; 4) A predominance of CRYAA, LIM2 and MIP variants involve arginine to cysteine changes, and CRYGD variants involve proline to threonine changes; 5) The interpretation of variant pathogenicity is a great challenge. Uncertain variants in CC are present in up to 56.0% of the general population. In conclusion, identified monogenic variants contribute to approximately two-thirds of CC, which has been underestimated as one-third before. These findings broaden the current understanding of the genotype-phenotype relationships in CC and underscore the importance of precise genetic classification for effective diagnosis and management. Further exploration of these genetic factors may provide new insights into prevention and treatment strategies for CC.

先天性白内障（Congenital cataract， CC）是指出生时晶状体混浊，对儿童早期视力发育和终身视力损害构成相当大的挑战。尽管很大一部分CC病例是由遗传缺陷引起的，但在了解基因型-表型相关性以及与此相关的潜在致病变异的特征方面仍存在重大差距。在目前的研究中，通过比较文献综述来自Cat-map和HGMD的39个已知CC相关基因，在150个CC家族的内部队列中，通过比较10530个不同眼病家族的内部外显子组测序数据以及gnomAD数据库的数据，研究了CC的遗传结构。对比分析表明：1)内部遗传诊断率为63.3% (95/150)；2)特定基因的变异与不同的表型相关，特别是BFSP2、MIP、GJA3、PITX3和CRYGD的变异；3) GJA3变异常与高度近视相关，CRYGC变异常与小角膜或小眼相关；4) CRYAA、LIM2和MIP变异主要涉及精氨酸到半胱氨酸的变化，CRYGD变异主要涉及脯氨酸到苏氨酸的变化；5)变异致病性的解释是一个巨大的挑战。不确定的CC变异存在于高达56.0%的普通人群中。总之，确定的单基因变异贡献了大约三分之二的CC，这在以前被低估为三分之一。这些发现拓宽了目前对CC基因型-表型关系的理解，并强调了精确的遗传分类对有效诊断和管理的重要性。进一步探索这些遗传因素可能为CC的预防和治疗策略提供新的见解。

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引用次数: 0

Pachychoroid disease spectrum: how multimodal imaging and OCT angiography have improved our knowledge 厚脉络膜疾病谱：多模态成像和OCT血管造影如何提高我们的知识。

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-05-23 DOI: 10.1016/j.preteyeres.2025.101372

Pasquale Viggiano , Giacomo Boscia , Elham Sadeghi , Gemmy Cheung , Enrico Borrelli , Giovanni Alessio , Jay Chhablani , Francesco Boscia

Pachychoroid spectrum disorders (PSDs) represent a group of chorioretinal disorders characterized by abnormal choroidal thickening and various pathological changes in the choroid, retinal pigment epithelium, and retina. This review provides a comprehensive analysis of current multimodal imaging techniques in the diagnosis and management of PSDs. We examine the role of various imaging modalities including optical coherence tomography (OCT), OCT angiography (OCTA), en face OCT, fluorescein angiography (FA), indocyanine green angiography (ICGA), infrared imaging (IR), and fundus autofluorescence (FAF) in evaluating PSDs. Each imaging modality provides unique insights: OCT reveals characteristic choroidal thickening and structural changes; OCTA demonstrates alterations in choroidal flow and neovascularization; en face OCT allows detailed visualization of choroidal vasculature and intervortex anastomoses; FA shows patterns of leakage; ICGA reveals choroidal hyperpermeability and pachyvessels; IR imaging assists in RPE evaluation; and FAF highlights RPE dysfunction. The integration of these imaging techniques has enhanced our understanding of the pathophysiology of PSDs and improved our ability to diagnose, monitor, and treat these conditions. This review particularly emphasizes how OCTA has advanced our knowledge of choroidal circulation and neovascularization in PSDs. We also discuss future directions in imaging technology and their potential impact on personalized therapeutic approaches, including optimized photodynamic therapy based on imaging biomarkers. The synergistic use of multimodal imaging represents a cornerstone in the management of PSDs, enabling more precise diagnosis and tailored treatment strategies.

厚脉络膜谱系疾病（psd）是一组以脉络膜异常增厚和脉络膜、视网膜色素上皮和视网膜的各种病理改变为特征的脉络膜视网膜疾病。本文综述了目前多模态成像技术在psd诊断和治疗中的应用。我们研究了各种成像方式的作用，包括光学相干断层扫描（OCT）、OCT血管造影（OCTA）、表面OCT、荧光素血管造影（FA）、吲哚菁绿血管造影（ICGA）、红外成像（IR）和眼底自身荧光（FAF）在评估psd中的作用。每种成像方式都提供了独特的见解：OCT显示特征性脉络膜增厚和结构变化；OCTA显示脉络膜血流和新生血管的改变；正面OCT可以详细显示脉络膜血管系统和漩涡间吻合；FA显示渗漏模式；ICGA显示脉络膜高通透性和血管粗大；红外成像有助于RPE评估；FAF则突出了RPE功能障碍。这些成像技术的整合增强了我们对psd病理生理学的理解，提高了我们诊断、监测和治疗这些疾病的能力。这篇综述特别强调了OCTA如何提高了我们对psd脉络膜循环和新生血管的认识。我们还讨论了成像技术的未来方向及其对个性化治疗方法的潜在影响，包括基于成像生物标志物的优化光动力治疗。多模态成像的协同使用是psd管理的基石，可以实现更精确的诊断和量身定制的治疗策略。

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引用次数: 0

The march to harmonized imaging standards for retinal imaging 视网膜成像统一成像标准的推进。

IF 18.6 1区医学 Q1 OPHTHALMOLOGY

Progress in Retinal and Eye Research

Pub Date : 2025-05-11 DOI: 10.1016/j.preteyeres.2025.101363

Nayoon Gim , Alina N. Ferguson , Marian Blazes , Cecilia S. Lee , Aaron Y. Lee

The adoption of standardized imaging protocols in retinal imaging is critical to overcoming challenges posed by fragmented data formats across devices and manufacturers. The lack of standardization hinders clinical interoperability, collaborative research, and the development of artificial intelligence (AI) models that depend on large, high-quality datasets. The Digital Imaging and Communication in Medicine (DICOM) standard offers a robust solution for ensuring interoperability in medical imaging. Although DICOM is widely utilized in radiology and cardiology, its adoption in ophthalmology remains limited. Retinal imaging modalities such as optical coherence tomography (OCT), fundus photography, and OCT angiography (OCTA) have revolutionized retinal disease management but are constrained by proprietary and non-standardized formats.

This review underscores the necessity for harmonized imaging standards in ophthalmology, detailing DICOM standards for retinal imaging including ophthalmic photography (OP), OCT, and OCTA, and their requisite metadata information. Additionally, the potential of DICOM standardization for advancing AI applications in ophthalmology is explored. A notable example is the Artificial Intelligence Ready and Equitable Atlas for Diabetes Insights (AI-READI) dataset, the first publicly available standards-compliant DICOM retinal imaging dataset. This dataset encompasses diverse retinal imaging modalities, including color fundus photography, infrared, autofluorescence, OCT, and OCTA. By leveraging multimodal retinal imaging, AI-READI provides a transformative resource for studying diabetes and its complications, setting a blueprint for future datasets aimed at harmonizing imaging formats and enabling AI-driven breakthroughs in ophthalmology. Our manuscript also addresses challenges in retinal imaging for diabetic patients, retinal imaging-based AI applications for studying diabetes, and potential advancements in retinal imaging standardization.

在视网膜成像中采用标准化成像协议对于克服设备和制造商之间碎片化数据格式带来的挑战至关重要。缺乏标准化阻碍了临床互操作性、协作研究以及依赖于大型高质量数据集的人工智能（AI）模型的开发。医学数字成像和通信（DICOM）标准为确保医学成像的互操作性提供了一个强大的解决方案。虽然DICOM在放射学和心脏病学中得到了广泛的应用，但在眼科中的应用仍然有限。视网膜成像方式，如光学相干断层扫描（OCT）、眼底摄影和OCT血管造影（OCTA）已经彻底改变了视网膜疾病的管理，但受到专有和非标准化格式的限制。这篇综述强调了协调眼科成像标准的必要性，详细介绍了包括眼科摄影（OP）、OCT和OCTA在内的视网膜成像DICOM标准及其必要的元数据信息。此外，还探讨了DICOM标准化在推进人工智能在眼科应用方面的潜力。一个值得注意的例子是糖尿病洞察人工智能准备和公平地图集（AI-READI）数据集，这是第一个公开可用的符合标准的DICOM视网膜成像数据集。该数据集包含多种视网膜成像方式，包括彩色眼底摄影，红外，自体荧光，OCT和OCTA。通过利用多模态视网膜成像，AI-READI为研究糖尿病及其并发症提供了变革性的资源，为未来的数据集制定了蓝图，旨在协调成像格式，并使人工智能驱动的眼科突破成为可能。我们的手稿还讨论了糖尿病患者视网膜成像的挑战，基于视网膜成像的人工智能应用于糖尿病研究，以及视网膜成像标准化的潜在进展。

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