Progress in Retinal and Eye Research最新文献

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Exploring retinal conditions through blue light reflectance imaging. 通过蓝光反射成像探索视网膜状况。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-03 DOI: 10.1016/j.preteyeres.2024.101326
Ricardo Luz Leitão Guerra, Cezar Luz Leitão Guerra, Mariana Gouveia Bastos Meirelles, Gabriel Castilho Sandoval Barbosa, Eduardo Amorim Novais, Emmerson Badaró, Luiz Filipe Adami Lucatto, Luiz Roisman
{"title":"Exploring retinal conditions through blue light reflectance imaging.","authors":"Ricardo Luz Leitão Guerra, Cezar Luz Leitão Guerra, Mariana Gouveia Bastos Meirelles, Gabriel Castilho Sandoval Barbosa, Eduardo Amorim Novais, Emmerson Badaró, Luiz Filipe Adami Lucatto, Luiz Roisman","doi":"10.1016/j.preteyeres.2024.101326","DOIUrl":"10.1016/j.preteyeres.2024.101326","url":null,"abstract":"<p><p>Blue light reflectance (BLR) imaging offers a non-invasive, cost-effective method for evaluating retinal structures by analyzing the reflectance and absorption characteristics of the inner retinal layers. By leveraging blue light's interaction with retinal tissues, BLR enhances visualization beyond the retinal nerve fiber layer, improving detection of structures such as the outer plexiform layer and macular pigment. Its diagnostic utility has been demonstrated in distinct retinal conditions, including hyperreflectance in early macular telangiectasia, hyporeflectance in non-perfused areas indicative of ischemia, identification of pseudodrusen patterns (notably the ribbon type), and detection of peripheral retinal tears and degenerative retinoschisis in eyes with reduced retinal pigment epithelial pigmentation. Best practices for image acquisition and interpretation are discussed, emphasizing standardization to minimize variability. Common artifacts and mitigation strategies are also addressed, ensuring image reliability. BLR's clinical utility, limitations, and future research directions are highlighted, particularly its potential in automated image analysis and quantitative assessment. Different BLR acquisition methods, such as fundus photography, confocal scanning laser ophthalmoscopy, and broad line fundus imaging, are evaluated for their respective advantages and limitations. As research advances, BLR's integration into multimodal workflows is expected to improve early detection and precise monitoring of retinal diseases.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101326"},"PeriodicalIF":18.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932486","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
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration. 假性黄斑萎缩(EMAP)的临床特征、诊断标准以及对遗传性视网膜疾病和老年性黄斑变性的认识。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-11-25 DOI: 10.1016/j.preteyeres.2024.101320
Alessio Antropoli, Lorenzo Bianco, Francesco Romano, Andrea Trinco, Alessandro Arrigo, Amine Benadji, Raphaël Atia, Oana Palacci, Dorothée Dagostinoz, Céline Devisme, Christel Condroyer, Aline Antonio, Francesca Bosello, Stefano Casati, Anna Paola Salvetti, Chiara Zaffalon, Alain Gaudric, José-Alain Sahel, Giovanni Staurenghi, Francesco Bandello, Florian Sennlaub, Christina Zeitz, Isabelle Meunier, Maurizio Battaglia Parodi, Isabelle Audo
{"title":"Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.","authors":"Alessio Antropoli, Lorenzo Bianco, Francesco Romano, Andrea Trinco, Alessandro Arrigo, Amine Benadji, Raphaël Atia, Oana Palacci, Dorothée Dagostinoz, Céline Devisme, Christel Condroyer, Aline Antonio, Francesca Bosello, Stefano Casati, Anna Paola Salvetti, Chiara Zaffalon, Alain Gaudric, José-Alain Sahel, Giovanni Staurenghi, Francesco Bandello, Florian Sennlaub, Christina Zeitz, Isabelle Meunier, Maurizio Battaglia Parodi, Isabelle Audo","doi":"10.1016/j.preteyeres.2024.101320","DOIUrl":"10.1016/j.preteyeres.2024.101320","url":null,"abstract":"<p><p>Extensive macular atrophy with pseudodrusen-like appearance (EMAP) was first described in France in 2009 as a symmetric and rapidly progressive form of macular atrophy primarily affecting middle-aged individuals. Despite the recent identification of a significant number of cases in Italy and worldwide, EMAP remains an underrecognized condition. The clinical triad typical of EMAP consists of vertically oriented macular atrophy with multilobular borders, pseudodrusen-like deposits across the posterior pole and mid-periphery, and peripheral pavingstone degeneration. Nonetheless, recent research has portrayed EMAP as a highly stage-dependent condition, allowing the identification of novel disease hallmarks, including a diffuse separation between the Bruch's membrane and the retinal pigment epithelium, along with consistent sparing of a region temporal to the macula. Additionally, retinal electrophysiology is particularly useful in distinguishing EMAP from age-related macular degeneration (AMD). Supported by unpublished data from the largest EMAP cohorts worldwide, this review aims to provide a comprehensive and updated description of EMAP, now recognized as a severely blinding disease characterized by diffuse chorioretinal atrophy and photoreceptor dysfunction. Furthermore, we propose a set of diagnostic criteria that incorporate clinical, imaging, and functional tests, to facilitate the recognition of this clinical entity. Lastly, we aim to shed light on its pathogenesis by comparing it with AMD and monogenic retinal disorders exhibiting similar phenotypes.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101320"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740381","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
Corneal cross-linking. 角膜交联史。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-12-15 DOI: 10.1016/j.preteyeres.2024.101322
Farhad Hafezi, Sabine Kling, Nikki L Hafezi, M Enes Aydemir, Nan-Ji Lu, Mark Hillen, Boris Knyazer, Shady Awwad, Cosimo Mazzotta, Léonard Kollros, Emilio A Torres-Netto
{"title":"Corneal cross-linking.","authors":"Farhad Hafezi, Sabine Kling, Nikki L Hafezi, M Enes Aydemir, Nan-Ji Lu, Mark Hillen, Boris Knyazer, Shady Awwad, Cosimo Mazzotta, Léonard Kollros, Emilio A Torres-Netto","doi":"10.1016/j.preteyeres.2024.101322","DOIUrl":"10.1016/j.preteyeres.2024.101322","url":null,"abstract":"<p><p>First introduced over 20 years ago as a treatment for progressive keratoconus, the original \"Dresden\" corneal cross-linking (CXL) protocol involved riboflavin saturation of the stroma, followed by 30 min of 3 mW/cm<sup>2</sup>-intensity ultraviolet-A (UV-A) irradiation. This procedure generates reactive oxygen species (ROS) that cross-link stromal molecules, thereby stiffening the cornea and counteracting the ectasia-induced weakening. Due to their large size, riboflavin molecules cannot readily pass through the corneal epithelial cell tight junctions; thus, epithelial debridement was performed. Moreover, the Dresden protocol necessitates a minimal corneal thickness of 400 μm to protect the endothelium from UV-induced damage. While the Dresden protocol is highly effective at enhancing corneal biomechanical strength, there was a strong desire for CXL procedures that would deliver Dresden-like strengthening in a shorter time, in corneas thinner than 400 μm, and without requiring epithelial debridement. This review explores the advancements and scientific discoveries that have enabled such improvements. Accelerated CXL protocols, utilizing our increased knowledge about the role of oxygen and photochemical reactions in the cornea have shortened and simplified the procedure duration while maintaining efficacy and safety, improving clinical workflow and patient compliance. CXL is not confined to improving biomechanics in corneal ectasia, but rather represents a technique that modulates corneal physiology and biochemistry on multiple levels. Accordingly, CXL indications have expanded to include treating other corneal ectasias, corneal neovascularization, corneal sterile melting, inflammatory dry eye and importantly, infectious keratitis in a procedure termed photoactivated chromophore for keratitis-CXL (PACK-CXL). In PACK-CXL, ROS have a direct pathogen-killing effect, and cross-linking enhances the cornea's resistance to pathogen-produced protease digestion through steric hindrance. The distinct requirements of PACK-CXL compared to ectasia treatment have led to the development of different CXL protocols, including higher UV fluences and other chromophore/light combinations, specifically rose bengal and green light. Additionally, combining CXL with vision-enhancing procedures like individualized wavefront- or topographically-guided excimer ablation can regularize a biomechanically stable cornea, improve visual acuity, and potentially eliminate the need for corneal transplantation, leading to long-term improvements in quality of life.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101322"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838404","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
pH in the vertebrate retina and its naturally occurring and pathological changes. 脊椎动物视网膜的pH值及其自然发生和病理变化。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-11-26 DOI: 10.1016/j.preteyeres.2024.101321
Andrey V Dmitriev, Robert A Linsenmeier
{"title":"pH in the vertebrate retina and its naturally occurring and pathological changes.","authors":"Andrey V Dmitriev, Robert A Linsenmeier","doi":"10.1016/j.preteyeres.2024.101321","DOIUrl":"10.1016/j.preteyeres.2024.101321","url":null,"abstract":"<p><p>This review summarizes the existing information on the concentration of H<sup>+</sup> (pH) in vertebrate retinae and its changes due to various reasons. Special features of H<sup>+</sup> homeostasis that make it different from other ions will be discussed, particularly metabolic production of H<sup>+</sup> and buffering. The transretinal distribution of extracellular H<sup>+</sup> concentration ([H<sup>+</sup>]<sub>o</sub>) and its changes under illumination and other conditions will be described in detail, since [H<sup>+</sup>]<sub>o</sub> is more intensively investigated than intracellular pH. In vertebrate retinae, the highest [H<sup>+</sup>]<sub>o</sub> occurs in the inner part of the outer nuclear layer, and decreases toward the RPE, reaching the blood level on the apical side of the RPE. [H<sup>+</sup>]<sub>o</sub> falls toward the vitreous as well, but less, so that the inner retina is acidic to the vitreous. Light leads to complex changes with both electrogenic and metabolic origins, culminating in alkalinization. There is a rhythm of [H<sup>+</sup>]<sub>o</sub> with H<sup>+</sup> being higher during circadian night. Extracellular pH can potentially be used as a signal in intercellular volume transmission, but evidence is against pH as a normal controller of fluid transport across the RPE or as a horizontal cell feedback signal. Pathological and experimentally created conditions (systemic metabolic acidosis, hypoxia and ischemia, vascular occlusion, excess glucose and diabetes, genetic disorders, and blockade of carbonic anhydrase) disturb H<sup>+</sup> homeostasis, mostly producing retinal acidosis, with consequences for retinal blood flow, metabolism and function.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101321"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Standard automated perimetry for glaucoma and diseases of the retina and visual pathways: Current and future perspectives. 青光眼及视网膜和视觉通路疾病的标准自动周边测量法:当前和未来展望。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-10-15 DOI: 10.1016/j.preteyeres.2024.101307
Jack Phu, Sieu K Khuu, Lisa Nivison-Smith, Michael Kalloniatis
{"title":"Standard automated perimetry for glaucoma and diseases of the retina and visual pathways: Current and future perspectives.","authors":"Jack Phu, Sieu K Khuu, Lisa Nivison-Smith, Michael Kalloniatis","doi":"10.1016/j.preteyeres.2024.101307","DOIUrl":"10.1016/j.preteyeres.2024.101307","url":null,"abstract":"<p><p>Static automated perimetry (SAP) remains a mainstay of functional assessment of the visual field in diseases of the visual pathway, such as glaucoma and age-related macular degeneration. The fundamental psychophysical task of responding to stimuli of different levels of contrast has remained minimally changed since its inception in the 1980s, and this is potentially the root of several unresolved issues involving the technique. Enduring issues include the optimisation of SAP parameters for maximising defect detection, the influence of subjective behaviour on the response, structure-function discordance, and ageing- and disease-related changes of the visual pathway. Addressing these issues has been a focus of our research program and is the subject of this manuscript. We will review some of the basic psychophysical principles and methods that have contributed to the development of SAP and their contributions to its output measurements. Parameters that are interrogated include stimulus size and background luminance and their modification to improve defect defection in glaucoma and age-related macular degeneration. We propose frameworks for optimising testing parameters and leveraging the results for changing clinical care. In our pursuit of optimising the structure-function relationship in the eye, several areas of research have been developed and explored, including: the reconciliation of subjective responses in perimetry; by minimising sources of biases, such as Method of Limits we have been able to equate static and kinetic perimetry outputs in relation to underlying structural loci. This also formed the basis for our clustering framework, which groups together statistically similar structural and functional test locations to maximise structure-function concordance. Throughout the manuscript, we review the scientific underpinnings of clinical measurements, framing application into real-world patients to improve clinical practice.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101307"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473529","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
Multiple gene therapy as a tool for regulating the expression of molecules involved in neovascular age-related macular degeneration. 多基因治疗作为调节新血管性年龄相关性黄斑变性相关分子表达的工具。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI: 10.1016/j.preteyeres.2024.101323
Thomas J Corydon, Toke Bek
{"title":"Multiple gene therapy as a tool for regulating the expression of molecules involved in neovascular age-related macular degeneration.","authors":"Thomas J Corydon, Toke Bek","doi":"10.1016/j.preteyeres.2024.101323","DOIUrl":"10.1016/j.preteyeres.2024.101323","url":null,"abstract":"<p><p>Anti-vascular endothelial growth factor (VEGF) therapies have revolutionized the treatment of neovascular age-related macular degeneration (nAMD) and other retinal diseases. However, the necessity for repeated intravitreal injections and the observation of variable treatment responses calls for new treatment modalities where fewer and more effective interventions can result in a clinical effect. Gene therapy might be such an alternative, and therefore the development and clinical application of gene therapy aimed at modifying gene expression has received considerable attention. The article reviews current knowledge of the background, pathophysiological mechanisms, technologies, limitations, and future directions for gene therapy aimed at modifying the synthesis of compounds involved in acquired and senescent retinal disease. The authors have contributed to the field by developing gene therapy to reduce the expression of vascular endothelial growth factor (VEGF), as well as multiple gene therapy for simultaneous downregulation of the synthesis of VEGF and upregulation of pigment epithelium-derived factor (PEDF) using adeno-associated virus (AAV) vectors. It is suggested that such multi-target gene therapy might be included in future treatments of retinal diseases where the underlying mechanisms are complex and cannot be attributed to one specific mediator. Such diseases might include dry AMD (dAMD) with geographic atrophy, but also diabetic macular edema (DME) and retinal vein occlusion (RVO). Gene therapy can be expected to be most beneficial for the patients in need of multiple intra-vitreal injections and in whom the therapeutic response is insufficient. It is concluded, that in parallel with basic research, there is a need for clinical studies aimed at identifying factors that can be used to identify patients who will benefit from gene therapy already at the time of diagnosis of the retinal disease.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101323"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822540","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
Corrigendum to "Optical coherence tomography in the management of diabetic macular oedema" [Prog. Retin. Eye Res. 98 (2024) 101220]. “光学相干断层扫描在糖尿病性黄斑水肿治疗中的应用”的勘误表。Retin。中国生物医学工程学报,2004,(2):1 - 2。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2025-01-01 Epub Date: 2024-11-30 DOI: 10.1016/j.preteyeres.2024.101319
Simon Kh Szeto, Timothy Yy Lai, Stela Vujosevic, Jennifer K Suns, SriniVas R Sadda, Gavin Tan, Sobha Sivaprasad, Tien Y Wong, Carol Y Cheung
{"title":"Corrigendum to \"Optical coherence tomography in the management of diabetic macular oedema\" [Prog. Retin. Eye Res. 98 (2024) 101220].","authors":"Simon Kh Szeto, Timothy Yy Lai, Stela Vujosevic, Jennifer K Suns, SriniVas R Sadda, Gavin Tan, Sobha Sivaprasad, Tien Y Wong, Carol Y Cheung","doi":"10.1016/j.preteyeres.2024.101319","DOIUrl":"10.1016/j.preteyeres.2024.101319","url":null,"abstract":"","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101319"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142771861","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
Syndromic Retinitis Pigmentosa. 综合征性色素性视网膜炎。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2024-12-27 DOI: 10.1016/j.preteyeres.2024.101324
Jessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, Astrid S Plomp, Ronald J A Wanders, Carel B Hoyng, Mary J van Schooneveld, Nicoline E Schalij-Delfos, Marion M Brands, Bart P Leroy, Clara D M van Karnebeek, Arthur A Bergen, Maria M van Genderen, Camiel J F Boon
{"title":"Syndromic Retinitis Pigmentosa.","authors":"Jessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, Astrid S Plomp, Ronald J A Wanders, Carel B Hoyng, Mary J van Schooneveld, Nicoline E Schalij-Delfos, Marion M Brands, Bart P Leroy, Clara D M van Karnebeek, Arthur A Bergen, Maria M van Genderen, Camiel J F Boon","doi":"10.1016/j.preteyeres.2024.101324","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2024.101324","url":null,"abstract":"<p><p>Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives. Given the diverse clinical and genetic landscape of syndromic RP, the diagnosis may be challenging. However, an accurate and timely diagnosis is essential for optimal clinical management, prognostication, and potential treatment. Broadly, the syndromes associated with RP can be categorized into ciliopathies, inherited metabolic disorders, mitochondrial disorders, and miscellaneous syndromes. Among the ciliopathies associated with RP, Usher syndrome and Bardet-Biedl syndrome are the most well-known. Less common ciliopathies include Cohen syndrome, Joubert syndrome, cranioectodermal dysplasia, asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, and RHYNS syndrome. Several inherited metabolic disorders can present with RP including Zellweger spectrum disorders, adult Refsum disease, α-methylacyl-CoA racemase deficiency, certain mucopolysaccharidoses, ataxia with vitamin E deficiency, abetalipoproteinemia, several neuronal ceroid lipofuscinoses, mevalonic aciduria, PKAN/HARP syndrome, PHARC syndrome, and methylmalonic acidaemia with homocystinuria type cobalamin (cbl) C disease. Due to the mitochondria's essential role in supplying continuous energy to the retina, disruption of mitochondrial function can lead to RP, as seen in Kearns-Sayre syndrome, NARP syndrome, primary coenzyme Q10 deficiency, SSBP1-associated disease, and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Lastly, Cockayne syndrome and PERCHING syndrome can present with RP, but they do not fit the abovementioned hierarchy and are thus categorized as 'Miscellaneous'. Several first-in-human clinical trials are underway or in preparation for some of these syndromic forms of RP.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101324"},"PeriodicalIF":18.6,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903530","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
Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment. 解开上睑下垂:临床表现,遗传学和治疗的综合回顾。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2024-12-24 DOI: 10.1016/j.preteyeres.2024.101327
Hao Deng, Qianling Zhang, Junhui Yi, Lamei Yuan
{"title":"Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment.","authors":"Hao Deng, Qianling Zhang, Junhui Yi, Lamei Yuan","doi":"10.1016/j.preteyeres.2024.101327","DOIUrl":"10.1016/j.preteyeres.2024.101327","url":null,"abstract":"<p><p>Ptosis is defined as an abnormally low-lying upper eyelid margin on the primary gaze, generally resulting from a congenital or acquired abnormality of the nerves or muscles that control the eyelid. Ptosis can occur alone or concurrently as an ocular or systemic syndrome, and the prevalence of ptosis varies among different countries and populations. Isolated ptosis typically causes aesthetic problems in patients and can lead to functional ophthalmic problems in severe cases. In individuals with syndromic ptosis, ptosis can be a warning of serious medical problems. There are different approaches to classification, depending on the onset time or the etiology of ptosis, and the clinical characteristics of congenital and acquired ptosis also differ. Pedigree and genetic analysis have demonstrated that hereditary ptosis is clinically heterogeneous, with incomplete concordance and variable expressivity. A number of genetic loci and genes responsible for hereditary isolated and syndromic ptosis have been reported. Optimal surgical timing and proper method are truly critical for avoiding the risk of potentially severe outcomes from ptosis and minimizing surgical complications, which are challenging as the pathogenesis is still indistinct and the anatomy is complex. This review provides a comprehensive review of ptosis, by summarizing the clinical manifestations, classification, diagnosis, genetics, treatment, and prognosis, as well as the bound anatomy of upper eyelid.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101327"},"PeriodicalIF":18.6,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896825","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
Healing the Cornea: Exploring the Therapeutic Solutions Offered by MSCs and MSC-derived EVs. 角膜愈合:探索间充质干细胞和间充质干细胞衍生的内皮细胞提供的治疗方案。
IF 18.6 1区 医学
Progress in Retinal and Eye Research Pub Date : 2024-12-19 DOI: 10.1016/j.preteyeres.2024.101325
Manon Jammes, Abbas Tabasi, Trung Bach, Thomas Ritter
{"title":"Healing the Cornea: Exploring the Therapeutic Solutions Offered by MSCs and MSC-derived EVs.","authors":"Manon Jammes, Abbas Tabasi, Trung Bach, Thomas Ritter","doi":"10.1016/j.preteyeres.2024.101325","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2024.101325","url":null,"abstract":"<p><p>Affecting a large proportion of the population worldwide, corneal disorders constitute a concerning health hazard associated to compromised eyesight or blindness for most severe cases. In the last decades, mesenchymal stem/stromal cells (MSCs) demonstrated promising abilities in improving symptoms associated to corneal diseases or alleviating these affections, especially through their anti-inflammatory, immunomodulatory and pro-regenerative properties. More recently, MSC therapeutic potential was shown to be mediated by the molecules they release, and particularly by their extracellular vesicles (EVs; MSC-EVs). Consequently, using MSC-EVs emerged as a pioneering strategy to mitigate the risks related to cell therapy while providing MSC therapeutic benefits. Despite the promises given by MSC- and MSC-EV-based approaches, many improvements are considered to optimize the therapeutic significance of these therapies. This review aspires to provide a comprehensive and detailed overview of current knowledge on corneal therapies involving MSCs and MSC-EVs, the strategies currently under evaluation, and the gaps remaining to be addressed for clinical implementation. From encapsulating MSCs or their EVs into biomaterials to enhance the ocular retention time to loading MSC-EVs with therapeutic drugs, a wide range of ground-breaking strategies are currently contemplated to lead to the safest and most effective treatments. Promising research initiatives also include diverse gene therapies and the targeting of specific cell types through the modification of the EV surface, paving the way for future therapeutic innovations. As one of the most important challenges, MSC-EV large-scale production strategies are extensively investigated and offer a wide array of possibilities to meet the needs of clinical applications.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101325"},"PeriodicalIF":18.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872762","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}
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