Progress in Retinal and Eye Research最新文献

{"title":"The Physiology of Dark Adaptation: Progress and Future Directions.","authors":"Gordon L Fain, M Carter Cornwall","doi":"10.1016/j.preteyeres.2025.101407","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2025.101407","url":null,"abstract":"<p><p>Exposure of the eye to bright bleaching light produces a large decrease in photoreceptor sensitivity, followed by a slow return during adaptation to darkness. Although much progress has been made understanding the nature of this phenomenon, particularly its biochemistry, less is known about the physiology of dark adaptation. In this review, we summarize the evidence for desensitization produced by photoproducts of bleaching, especially apo-opsin, that is opsin without bound chromophore. We describe the relationship between these studies and diseases such as vitamin A deprivation and congenital stationary night blindness; the effects of analogs of chromophore on photoreceptor sensitivity; and the roles of transducin, rhodopsin kinase, and arrestin. We review many specialized features of dark adaptation in cones, including the role of retinal G protein-coupled receptor (RGR) opsin. For both rod and cone dark adaptation, we summarize some of the principal uncertainties in our understanding. We hope our review will provide a guide to past work as well as an indicator of many possible areas of future research.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101407"},"PeriodicalIF":14.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182198","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}

{"title":"Consensuses and controversies on causes, diagnosis and management of diabetic macular edema (DME).","authors":"Danny S C Ng, Paisan Ruamviboonsuk, Rajendra S Apte, Sanyam Bajimaya, Carmen K M Chan, Andrew Chang, Carol Y Cheung, Shih-Jen Chen, Varun Chaudhary, Voraporn Chaikitmongkol, Jay Chhablani, Taraprasad Das, Suber S Huang, Jost B Jonas, Timothy Y Y Lai, Chi-Chun Lai, Jin Ma, Marion R Munk, Raja Narayanan, Nishant V Radke, Min Sagong, Charumathi Sabanayagam, Sobha Sivaprasad, Masahiko Shimura, Koh-Hei Sonoda, Jennifer K Sun, Gavin S W Tan, Brijesh Takkar, Gianni Virgili, Stela Vujosevic, Min Wang, Seung-Young Yu, Xinyuan Zhang, Jingfa Zhang, Tien-Yin Wong, Dennis S C Lam","doi":"10.1016/j.preteyeres.2025.101406","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2025.101406","url":null,"abstract":"<p><p>Diabetic macular edema (DME) is the most common cause of vision-threatening diabetic retinopathy (VTDR) with an increasing prevalence tied to the global epidemic in diabetes. Despite significant advances, the management of DME remains a dynamic field with many unresolved controversies. Optical coherence tomography (OCT) allows objective assessment, however, correlation between vision and morphological changes can be inconsistent, causing disagreements on treatment strategies. DME is a complex disease with multifactorial pathophysiological pathways, leading to heterogenous treatment responses. There is a lack of standardized definition of treatment 'non-response\" and protocol for switching to second-line or adjuvant treatments. New anti-vascular endothelial growth factor (anti-VEGF) drugs and multi-targeted therapies seem to demonstrate improved durability, but long-term data is not yet available. Research in artificial intelligence (AI) is developing rapidly, however, rigorous appraisal of its reliability and generalizability are necessary before its implementation. Significant vision loss from DME in pregnant women, young children and elderly patients with systemic comorbidities are challenging conundrums. An international panel of experts (IPE) comprising 36 experts from 16 countries formulated and voted on the consensus statements in 5 key areas: 1) Diagnostic controversies around classification and imaging; 2) Treatment controversies; 3) Management paradigm between protocol-based and individualized approaches; 4) Emerging controversies in novel therapeutics and AI application, and 5) Special considerations for specific patient populations. There is an imminent need for mutual agreement on the best-possible approach to DME management in order to promote the optimal patient outcomes and to identify specific issues that require prioritization of resources and research.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101406"},"PeriodicalIF":14.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177923","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}

{"title":"Keeping the Lights On: a new Role for an old Drug to support Cone Survival in Retinitis Pigmentosa.","authors":"Debora Napoli, Beatrice Di Marco, Giulia Salamone, Noemi Orsini, Raffaele Mazziotti, Enrica Strettoi","doi":"10.1016/j.preteyeres.2025.101403","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2025.101403","url":null,"abstract":"<p><p>Retinitis Pigmentosa (RP) is an incurable disorder characterized by progressive vision loss due to photoreceptor degeneration, typically following a rod-cone sequence. Rods die first, driven by primary genetic mutations; cones then degenerate secondarily through bystander mechanisms. As cones mediate daylight and high-acuity vision, crucial to human visual function, even partial preservation of these cells can profoundly enhance quality of life, regardless of the underlying genetic defect. Although significant progress has been made in understanding RP genetics and developing targeted therapies such as gene augmentation, a universal cure remains out of reach. This review centers on the biological drivers of secondary cone degeneration, with a focus on oxidative stress, metabolic dysfunction, and inflammation. Inflammation, now recognized as a key contributor to RP progression, involves the activation of microglia and infiltration by macrophages, both of which exacerbate retinal damage and offer promising therapeutic targets. We briefly survey current treatment modalities that have advanced to clinical application, including gene therapies, retinal prostheses, and neuroprotective strategies. Building on this therapeutic landscape, we propose a rationale for exploring ocular glucocorticoids-specifically dexamethasone-as a treatment avenue. Recent in vivo evidence from the rd10 mouse model demonstrates that intraocular dexamethasone, a long-approved agent for ocular inflammation, can preserve cone photoreceptors and protect the retinal pigment epithelium, a critical barrier for retinal homeostasis. Glucocorticoids may thus represent a class of mutation-agnostic therapeutics with strong translational promise. Their repurposing for RP could help safeguard photoreceptors and visual function, addressing a pressing and unmet clinical need.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101403"},"PeriodicalIF":14.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150636","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}

{"title":"Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.","authors":"Domenico Mordà, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Sergio Zaccaria Scalinci, Giorgia Abate, Rosalia D'Angelo, Antonina Sidoti, Luigi Donato","doi":"10.1016/j.preteyeres.2025.101405","DOIUrl":"10.1016/j.preteyeres.2025.101405","url":null,"abstract":"<p><p>pediatric inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive visual function impairment, often manifesting from early childhood. These conditions arise from dysfunction in retinal morphogenesis, phototransduction, and cellular maintenance pathways, involving photoreceptors, the retinal pigment epithelium, and glial systems. This review provides an integrated analysis of the molecular underpinnings, phenotypic variability, diagnostic advancements, and emerging therapeutic avenues for pediatric IRDs. By systematically retracing the literature and leveraging over a decade of laboratory experience, we dissect each major form of pediatric IRD-such as Leber congenital amaurosis, retinitis pigmentosa, Stargardt disease, achromatopsia, and syndromic entities like Usher and Bardet-Biedl syndromes-emphasizing genotype-phenotype correlations and shared pathogenic pathways. Additionally, we discuss next-generation sequencing, advanced bioinformatics, and AI-based diagnostics, along with gene therapy, genome editing, and emerging biotechnologies. By mapping IRDs to molecular networks through Cytoscape and functional genomics, we identify converging pathogenic mechanisms and therapeutic targets. This compendium aims to serve as a reference for clinicians, researchers, and genetic counselors navigating the evolving IRD landscape.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101405"},"PeriodicalIF":14.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150659","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}

{"title":"Eyelid Dermatitis: Work-up and Future Diagnostic Innovative Solutions.","authors":"Elena Borzova, Steffen Heegaard, Elke O Kreps, Vanessa Smith, Maurizio Cutolo, Enzo Berardesca, Erika Ponzini, Stephanie Willerth, Christopher J Corrigan, Alain Taïeb, Werner Aberer, Riichiro Abe, Howard I Maibach, Jacob P Thyssen","doi":"10.1016/j.preteyeres.2025.101399","DOIUrl":"https://doi.org/10.1016/j.preteyeres.2025.101399","url":null,"abstract":"<p><strong>Background: </strong>Eyelid dermatitis (ED) is an interdisciplinary medical challenge affecting thousands of patients worldwide. ED management can be difficult in view of the numerous differential diagnoses and limited treatment options. We review the diagnostic work-up for ED patients, with a special focus on the latest innovative solutions.</p><p><strong>Observations: </strong>The diagnostic work-up of ED should include medical history, exposure analysis (direct contact, transfer by hands, airborne exposure, rarely ingestion) ocular complaints, clinical severity scores for eyelid manifestations, and consider general and specialized scoring systems. Patch testing and Schirmer test modifications can be used to delineate the underlying aetiology and to narrow the ED differential diagnosis. Metal release assays (nickel spot test, cobalt spot test) as well as gold jewelry avoidance can inform on clinically relevant metal allergy in selected cases. Repeated open application tests with cosmetic products can be used on the retroauricular skin. Transepidermal water loss (TEWL) measurements should be adapted for the eyelids. Further research on eyelid microbiome and transcriptomic biomarkers in the tear fluid and/or eyelid keratinocytes is required. Atopy patch testing with house dust mites (HDMs) can be helpful in selected cases but needs further standardization. Machine learning algorithms may aid image analysis for automated patch test readings and may leverage transcriptomic data for diagnostic classifications, particularly in ambiguous cases, and treatment monitoring in ED.</p><p><strong>Conclusions and relevance: </strong>ED diagnosis can be challenging and may require the collaboration of ophthalmologists, dermatologists, allergists, and rheumatologists. Diagnostic innovations exist but their value in the diagnostic work-up is currently unclear.</p>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":" ","pages":"101399"},"PeriodicalIF":14.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145125955","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}

{"title":"Clinical and histological aspects of the anatomy of myopia, myopic macular degeneration and myopia-associated optic neuropathy","authors":"Jost B. Jonas ,&nbsp;Rahul A. Jonas ,&nbsp;Songhomitra Panda-Jonas","doi":"10.1016/j.preteyeres.2025.101402","DOIUrl":"10.1016/j.preteyeres.2025.101402","url":null,"abstract":"<div><div>Axial myopia is characterized by a panoply of morphological, clinical and histological, features in association with longer axial length. It includes changes in the region peripheral to the optic nerve head (reduction in the density of photoreceptors and retinal pigment epithelium (RPE) cells and retinal thinning); in the optic nerve head region in moderately myopic eyes (shift of Bruch's membrane (BM) opening typically in the temporal/inferior direction, leading to a secondary BM overhang into the nasal intrapapillary compartment, BM absence in the temporal parapapillary region (“gamma zone”), and optic disc ovalization due to shortening of the ophthalmoscopically visible horizontal disc diameter; and widening of the RPE opening leading to myopic parapapillary beta zone), and in highly myopic eyes (BM opening enlargement resulting in a circular gamma zone, elongation and thinning of the lamina cribrosa (“secondary macrodisc”) and of the peripapillary scleral flange (“parapapillary delta zone”); and in the macular region with an elongation of the fovea–optic disc distance, reduction in angle kappa, straightening/stretching of the papillomacular retinal blood vessels and retinal nerve fibers (leading to a re-arrangement of the retinal nerve fibers with a myopia-specific regional distribution of the retinal nerve fiber layer thickness profile), choroidal thinning most pronounced at the posterior pole and affecting mainly the medium-sized and large choroidal vessel layer), and scleral thinning. Pathologic changes in the macular region are extrafoveally located, linear RPE layer defects (lacquer cracks), potentially widening to round RPE layer defects (patchy atrophies), in some eyes with central BM defects; BM defects with RPE layer defects in the foveal region, accompanied by macular neovascularization or subsequent subretinal RPE cell proliferation (“macular atrophy”); myopic macular retinoschisis; and staphylomas. With longer axial length, the prevalence of non-glaucomatous optic neuropathy and glaucoma-like/glaucomatous optic neuropathy steeply increases beyond an axial length of 26.0–26.5 mm. With BM thickness being independent of axial length and in view of eye shape change from an oblate or sphere in emmetropia to a prolate rotational ellipsoid in myopia, the myopia specific morphological changes may be associated with a primary BM enlargement in the region peripheral to the optic disc.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"109 ","pages":"Article 101402"},"PeriodicalIF":14.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145125901","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}

{"title":"Zinc in eye health, retinal biology and disease","authors":"Brian S. McKay ,&nbsp;Andreas M. Grabrucker ,&nbsp;Richard B. Thompson ,&nbsp;Emily Y. Chew ,&nbsp;Imre Lengyel ,&nbsp;Héctor González-Iglesias","doi":"10.1016/j.preteyeres.2025.101404","DOIUrl":"10.1016/j.preteyeres.2025.101404","url":null,"abstract":"<div><div>Zinc is an essential trace mineral that plays a crucial role in numerous bodily functions, including immune response, wound healing, and protein synthesis. Regarding eye health, zinc is particularly important due to its high concentration, functional abundance, and critical roles in the retina/RPE/choroid complex, where both deficiency and excess can lead to cellular dysfunction. This mineral contributes significantly to the maintenance of the structure and function of the tissues, and it is believed to help protect against oxidative stress, which can damage cells in the eye. The retinal pigment epithelium/choroid complex (RPE/choroid) contains the highest zinc concentration. Therefore, it is unsurprising that several eye disorders associated with this interface are associated with reduced zinc accumulation, and zinc supplementation has become an essential secondary preventive therapy for diseases like age-related macular degeneration (AMD). Despite zinc's importance in health and diseases of the outer retina, it still needs to be fully understood how zinc participates in cellular and molecular events and how zinc supplementation might be beneficial. However, it appears that adequate zinc levels are essential for retinal health and overall vision, particularly as we age. This review is focused on summarising our current understanding of the biology of zinc, with particular attention paid to the RPE/choroid interface.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"109 ","pages":"Article 101404"},"PeriodicalIF":14.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113590","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}

{"title":"Pentosan polysulfate maculopathy: clinical considerations, pathobiology, and causality","authors":"Brian P. Hall ,&nbsp;Sakshi Shiromani ,&nbsp;Brian L. Vanderbeek ,&nbsp;Sayantan Datta ,&nbsp;Preston E. Girardot ,&nbsp;Archeta Rajagopalan ,&nbsp;John M. Nickerson ,&nbsp;Jeffrey H. Boatright ,&nbsp;Nieraj Jain","doi":"10.1016/j.preteyeres.2025.101400","DOIUrl":"10.1016/j.preteyeres.2025.101400","url":null,"abstract":"<div><div>Pentosan polysulfate (PPS) maculopathy is a progressive, vision-threatening retinal disorder linked to prolonged use of PPS, a heparin-like sulfated polysaccharide prescribed for interstitial cystitis/bladder pain syndrome. Affected individuals often experience impaired dark adaptation and progressive central vision loss. Fundus imaging commonly reveals hyperpigmented macular clumps at the level of the retinal pigment epithelium (RPE), and a distinctive pattern of autofluorescence abnormality in the posterior fundus. This degenerative maculopathy may continue to progress even after drug cessation, with some patients developing macular atrophy years later.</div><div>While the underlying pathogenic mechanism remains unclear, mounting evidence supports a causal relationship between PPS use and the macular pathology. Studies have repeatedly demonstrated the strength of the association; the dose-response relationship; and the lack of confounding by indication. Furthermore, laboratory studies demonstrate that such a toxicity is biologically plausible, suggesting a direct toxicity to the RPE and/or choroid.</div><div>Given the widespread use of PPS over many decades, tens of thousands of individuals are already at risk for toxicity, with no known treatment available. However, screening rates remain low; prescribing rates continue to rise in certain regions; and novel applications for the drug, such as subcutaneous injection for osteoarthritis, are under clinical investigation. Consequently, there is a pressing need for increased recognition of PPS toxicity and further understanding of disease mechanisms. This review summarizes the clinical characteristics of PPS maculopathy, evaluates its public health impact, explores potential pathogenic mechanisms, and presents a compelling case for causality using clinical, laboratory, and epidemiological evidence.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"109 ","pages":"Article 101400"},"PeriodicalIF":14.7,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081424","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}

{"title":"Elements of visuopathy of prematurity are unified by intermittent or sustained systemic inflammation","authors":"Olaf Dammann,&nbsp;Tora S. Morken,&nbsp;Steven E. Brooks,&nbsp;Alison Chu,&nbsp;Christiane E.L. Dammann,&nbsp;M. Elizabeth Hartnett,&nbsp;Brian K. Stansfield,&nbsp;David K. Wallace","doi":"10.1016/j.preteyeres.2025.101392","DOIUrl":"10.1016/j.preteyeres.2025.101392","url":null,"abstract":"<div><div>We hypothesize that the major pathologies associated with the visual system in preterm infants, retinopathy of prematurity (ROP), cerebral visual impairment (CVI), and neurodevelopmental impairment (NDI), are unified by a common etio-pathogenesis involving intermittent and/or sustained systemic inflammation (ISSI). We refer to the resulting adverse visual outcomes (AVO) as “visuopathy of prematurity” (VOP). We present the published evidence supporting an etio-pathogenic paradigm centered around ISSI that begins before birth (early phase 1), is exacerbated in the newborn period (intermediate phase 2), and culminates in adverse visual and neurodevelopmental outcomes (late phase 3).</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"109 ","pages":"Article 101392"},"PeriodicalIF":14.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899258","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}

{"title":"Eyes shut homolog (EYS): Connecting molecule to disease","authors":"João Pedro Marques ,&nbsp;Inês Santos Sousa ,&nbsp;Daniela Patrício ,&nbsp;Bruno F. Simões ,&nbsp;Oluji Chukwunalu ,&nbsp;Christina Zeitz ,&nbsp;Isabelle Audo ,&nbsp;Rob W.J. Collin ,&nbsp;Peter M.J. Quinn ,&nbsp;António Francisco Ambrósio ,&nbsp;C. Henrique Alves","doi":"10.1016/j.preteyeres.2025.101391","DOIUrl":"10.1016/j.preteyeres.2025.101391","url":null,"abstract":"<div><div>Eyes shut homologue (<em>EYS)</em> stands out as one of the most commonly mutated genes causing autosomal recessive retinitis pigmentosa (arRP), with a worldwide prevalence ranging from 1.2 % to 23.5 %. The <em>EYS</em> gene is predominantly expressed in retinal photoreceptor cells, where four transcripts have been identified, each varying in length. The human EYS protein initiates with a signal peptide and comprises 21 epidermal growth factor (EGF)-like domains in its N-terminal followed by five C-terminal LamG domains, interspersed among additional EGF repeats. The existence of different isoforms suggests potential variations in their functions within the human body.</div><div>EYS-associated retinopathies present with a severe clinical phenotype and currently have no treatment options. The limited understanding of the role of EYS in the healthy and diseased retina remains a significant barrier to translating current advances into viable therapeutic interventions. This review consolidates existing knowledge on the molecular characteristics of EYS, animal and disease models, the clinical impact of <em>EYS</em> disease-causing variants, and the potential of emerging technologies in future therapeutic strategies for <em>EYS</em>-related diseases. Additionally, we contribute to the field by further elucidating the localization of EYS in the human retina, analyzing the most frequent variants and their positions within the gene, and proposing antisense oligonucleotides, and Prime and Base Editing strategies to correct some of the most recurrent pathogenic variants in <em>EYS</em>.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"108 ","pages":"Article 101391"},"PeriodicalIF":14.7,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144874951","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}