Eye最新文献

{"title":"Gene therapy advances using canine and feline animal models of inherited retinal degeneration.","authors":"Simon M Petersen-Jones, Billie Beckwith-Cohen","doi":"10.1038/s41433-025-03825-y","DOIUrl":"https://doi.org/10.1038/s41433-025-03825-y","url":null,"abstract":"<p><p>Inherited retinal degenerations (IRDs) are a genetically heterogenous group of visually impairing conditions that affect many people worldwide. They are caused by mutations in a variety of genes with a range of vision loss onset from childhood to middle-age. Many IRDs are inherited in an autosomal recessive fashion and are due to loss of function of the gene product, allowing for a standard gene augmentation approach in which a normal copy of the mutated gene is introduced. Retinal gene delivery using adeno-associated viral (AAV) vectors has proven to be the safest and most effective approach and has been used in many clinical trials. Introducing a normal copy of the mutated gene is applicable when used prior to advanced photoreceptor degeneration while there are still sufficient \"rescuable\" photoreceptors. Several naturally occurring IRDs which are homologous to human IRDs have been identified in the dog and cat. A subset of these has been successfully used for preclinical trials that have contributed to regulatory approval for subsequent human clinical trials. While most have been for recessive conditions due to loss of gene function, examples of dominant disease requiring a knockdown of the mutant transcript exist and have been used. IRDs bear a considerable economic and societal impact. Identification and familiarity with appropriate models that can lead to successful therapeutic approaches are of great significance. This narrative review aims to summarize advances in gene therapy using canine and feline models for human IRDs and discuss their advantages and disadvantages as well as future perspectives using them.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infographic: intravitreal therapy for uveitic macular edema-ranibizumab versus methotrexate versus the dexamethasone implant: the MERIT trial results.","authors":"Alhumam Alkhusheh, Muhammad Ashhad Noor","doi":"10.1038/s41433-025-03861-8","DOIUrl":"https://doi.org/10.1038/s41433-025-03861-8","url":null,"abstract":"","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advanced protocol for myopia management in paediatric & adolescent populations.","authors":"Jacques Bijon, Aurore Muselier, Gilles Martin, Pauline Beaujeux, Aude Couturier, Georges Caputo, Thibaut Chapron, Sophie Bonnin","doi":"10.1038/s41433-025-03858-3","DOIUrl":"https://doi.org/10.1038/s41433-025-03858-3","url":null,"abstract":"","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is it Haab's striae or healed hydrops? A case of Keratoglobus.","authors":"Anand Kumar Pathak, Viney Gupta, Shikha Gupta","doi":"10.1038/s41433-025-03863-6","DOIUrl":"https://doi.org/10.1038/s41433-025-03863-6","url":null,"abstract":"","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optic disc parameters and associations with early life exposures in over 3000 12-year-old children: findings from the ALSPAC cohort.","authors":"Alexandra L Creavin, Kate Tilling, Nicholas Timpson, Cathy Em Williams","doi":"10.1038/s41433-025-03716-2","DOIUrl":"10.1038/s41433-025-03716-2","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to investigate the distribution of small optic discs and large cup-to-disc ratio in children and to examine associations with maternal and environmental factors.</p><p><strong>Methods: </strong>Retinal photographs were graded from over 3000 12-year-olds in the Avon Longitudinal Study of Parents and Children. Regression models examined associations between disc parameters and maternal and early-life exposures.</p><p><strong>Results: </strong>Mean cup-to-disc area ratio (CDAR) for 3288 children was 0.21 (95%CI 0.20,0.21). Discs with CDAR > 0.3 were present in 11%. The odds of CDAR > 0.3 were increased nearly three-fold in underweight children (adjusted odds ratio (aOR) 2.9 (1.1, 7.3) p = 0.03) and 28-fold in severely premature ( < 28 weeks) children (paOR 28 95%CI 4.6,172, p < 0.001) with nearly one in four children affected. Mean cup-to-fovea/disc diameter (CF/DD) for 3327 children was 2.48 (95%CI 2.47,2.50). Small discs (CF/DD > 3) were present in 6% of which a third were bilateral. The odds of a small disc were increased in the offspring of mothers who smoked in pregnancy (aOR 1.7 (1.0,2.8) p = 0.04) and more than doubled in children born with a small head circumference (aOR 2.5 (1.4,4.5) p < 0.001).</p><p><strong>Conclusions: </strong>Small optic discs and high cup-to-disc ratio are more frequent than usually supposed at age 12. The odds of CDAR > 0.3 are increased by severe prematurity and pathologically low child BMI. The odds of a small disc are increased by maternal smoking and small head circumference. Optimisation of risk factors in pregnancy and delivery and early childhood nutrition may play an important role in ophthalmic neurodevelopment and thus have a lifelong impact on ocular health.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1592-1598"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative models of uveitis.","authors":"Olivia S Knutson, Soyoung Choi, Simon Williams, Virginia L Calder","doi":"10.1038/s41433-025-03693-6","DOIUrl":"10.1038/s41433-025-03693-6","url":null,"abstract":"<p><p>Several clinical subtypes of uveitis exist yet specific immunopathogenic mechanisms involved remain unclear. Ex vivo studies are limited by lack of fresh retinal biopsies and studies have relied on aqueous humour or peripheral blood, which may not directly reflect disease. The aim of this review is to compare the various in vivo models and review their contributions to our understanding of disease processes. These models, although unable to reflect all clinical signs, have provided insight into the contribution of genes and molecules, characterisation of effector T-cells, cell trafficking into retinal tissues, the contribution of tissue-resident myeloid cells and the mechanism(s) of action of several anti-inflammatory compounds. In vivo uveitis models have provided an excellent resource with which to study the molecular and cellular processes involved. Recent refinements in models, improved imaging, and the application of omics have greatly increased the number of readouts and translational opportunities. Future approaches with in vitro models will also be discussed.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1446-1450"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inner retinal hyper-reflective foci number correlates with flood-illumination adaptive optics ophthalmoscopy grading and systemic organ involvement in patients with Fabry disease.","authors":"Daniela Bacherini, Stefano Mercuri, Andrea Sodi, Gloria Gambini, Clara Rizzo, Stanislao Rizzo, Francesco Faraldi, Lino Cirami, Egrina Dervishi, Gianni Virgili, Fabrizio Giansanti","doi":"10.1038/s41433-025-03721-5","DOIUrl":"10.1038/s41433-025-03721-5","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the correlation of inner retinal hyper-reflective foci (HRFs) number with Flood-illumination Adaptive Optics Ophthalmoscopy (FIAOO) grading and systemic organ involvement in a cohort of patients with Fabry disease (FD).</p><p><strong>Methods: </strong>Observational and cross-sectional study. Thirty-two eyes of 16 genetically proven FD patients (11 females) were included in the analysis. Data regarding therapeutic regimen and organ involvement (heart, kidney, and brain) of each patient were reviewed. Patients underwent full ophthalmological examination including best-corrected visual acuity, retinography, spectral domain optical coherence tomography and FIAOO imaging grading of retinal vessels. The number of inner-retinal HRFs was determined within the central 2500 μm at the foveal level in each patient and correlation with ocular imaging findings and systemic involvement parameters was assessed through Spearman correlation analysis and Generalized Linear Models (GLM) with a robust Huber White standard error estimation.</p><p><strong>Results: </strong>Inner retinal HRFs number showed a significant association with male gender, use of enzyme replacement therapy and presence of retinal vessel tortuosity (all p < 0.001). Severity of NHYA class and presence of cornea verticillata reached a quasi-significant association (p = 0.089 and p = 0.07, respectively). Increase of FIAOO grading was associated to increased HRFs number (p < 0.001) and increase in estimated glomerular filtration rate was inversely associated with HRFs number (p = 0.04).</p><p><strong>Conclusions: </strong>Inner retinal HRF number correlated with organ involvement and ocular imaging findings in FD patients. They may represent a biomarker of disease severity in diagnosed patients and their presence should enhance the suspect of FD in the appropriate clinical setting.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1578-1583"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predicting the need for diabetic macular oedema treatment from photographic screening in the Singapore Integrated Diabetic Retinopathy Programme (SiDRP).","authors":"Stanley S J Poh, Kelvin Y C Teo, Rose Ann Goh, Qian Xin Lee, Haslina Hamzah, Serene S C Sim, Colin S Tan, Ngiap Chuan Tan, Tien Yin Wong, Gavin S W Tan","doi":"10.1038/s41433-025-03725-1","DOIUrl":"10.1038/s41433-025-03725-1","url":null,"abstract":"<p><strong>Objective: </strong>To identify diabetic maculopathy features from photographic screening that are predictive of treatment on referral to a tertiary care centre.</p><p><strong>Methods: </strong>Retrospective review of participants who underwent screening by Singapore Integrated Diabetic Retinopathy Programme from 2015 to 2019. Participants underwent visual acuity (VA) test and non-stereoscopic retinal photographs. Maculopathy features include haemorrhages, microaneurysm and hard exudates (HE), stratified by inner and outer zone (1 and 1-2 disc diameter from fovea respectively) and VA of 6/12. Diabetic macular oedema (DMO) treatment was defined as intravitreal injection or macular photocoagulation up to 540 days from point of referral.</p><p><strong>Results: </strong>16,712 patients screened had referable eye disease. Out of 3518 maculopathy suspects, 281 (8.0%) received DMO treatment within 540 days. Those treated for DMO had shorter duration of diabetes (6.90 vs. 9.13 years, p < 0.001), higher total cholesterol (4.65 ± 1.20 vs. 4.36 ± 1.13 mmol/L, p = 0.001) and LDL cholesterol (2.59 ± 1.05 vs. 2.37 ± 0.93 mmol/L, p < 0.05) than those without treatment. High-risk features, including inner zone haemorrhages with VA ≤ 6/12 (HR 12.0, 95% CI: 5.5-25.9) and inner zone hard exudates (HR 7.4, 95% CI: 3.4-15.8), significantly increased the likelihood of requiring DMO treatment compared to low-risk features. Higher body mass index is protective of DMO treatment in mild non-proliferative diabetic retinopathy (HR 0.84, 95% CI: 0.73-0.97).</p><p><strong>Conclusion: </strong>Haemorrhages, microaneurysms and HE within inner zone are important photographic features predictive of DMO treatment. VA is an important stratification for screening especially in patients with only visible haemorrhages.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1710-1716"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global prevalence and years lived with disability (YLDs) of cataract in 204 countries and territories: findings from the Global Burden of Disease Study 2021.","authors":"Min Li, Wenchang Jia, Jianling Song, Jiayi Ma, Yanping Zhou, Yan Han, Minghui Peng, Jing Zhou, Xiangwu Chen, Xiaopan Li","doi":"10.1038/s41433-025-03743-z","DOIUrl":"10.1038/s41433-025-03743-z","url":null,"abstract":"<p><strong>Background: </strong>Cataracts, the leading cause of blindness globally, significantly impair vision and quality of life, particularly among the elderly. Despite advancements in cataract surgery, challenges in accessibility and economic disparities hinder the reduction of cataract burden, especially in low-income regions. This study examines the global prevalence and years lived with disability (YLDs) due to cataracts from 1990 to 2021, providing insights to inform public health strategies.</p><p><strong>Methods: </strong>Utilizing data from the Global Burden of Disease (GBD) Study 2021, we analysed cataract prevalence and YLDs across 204 countries and territories. The estimates were stratified by age, sex, region, and Socio-Demographic Index (SDI) and compared across different time periods. Age-standardized rates (ASRs) and average annual percentage changes (AAPCs) were calculated to evaluate trends.</p><p><strong>Results: </strong>From 1990 to 2021, the global YLDs due to cataracts increased from 3.42 million to 6.55 million, a 91.8% rise. Most countries exhibited an increase in YLDs, with notable surges in low-SDI regions like Sub-Saharan Africa and South Asia. The AAPC for age-standardized prevalence rate (ASPR) was slightly positive globally, while the age-standardized YLD rate (ASYR) showed a decreasing trend, indicating improved cataract management. High-SDI regions experienced minor ASPR increases but significant ASYR reductions, reflecting effective interventions. Conversely, low-SDI regions saw declines in both ASPR and ASYR, though disparities persisted.</p><p><strong>Conclusion: </strong>The burden of cataracts remains substantial, with significant increases in YLDs driven by aging populations and improved diagnostic capabilities. Effective management strategies have reduced ASYRs, particularly in high-SDI regions. Addressing cataract burden in low-SDI regions requires enhanced healthcare access, targeted public health interventions, and global support. These findings underscore the need for continued investment in cataract prevention and treatment to mitigate the global impact.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1737-1743"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polygenic Risk Score Impact on Visual Function in Older Individuals with Healthy Macula: The Northern Ireland Sensory Ageing Study.","authors":"Fangyao Tang, Ruth E Hogg, Bethany E Higgins, David M Wright, Laura Smyth, Sobha Sivaprasad","doi":"10.1038/s41433-025-03642-3","DOIUrl":"10.1038/s41433-025-03642-3","url":null,"abstract":"<p><strong>Background/objectives: </strong>Although polygenic risk scores (PRSs) have been developed for age-related macular degeneration (AMD), it is not known whether these scores are associated with impairment of visual functions in older individuals with healthy macula. We evaluated age-related changes in visual function in people aged 55 years or above with healthy macula and determined the associations of age-related visual function changes with AMD PRS in people with healthy macula.</p><p><strong>Subjects/methods: </strong>Participants aged 55 years or above with healthy macula and a comparative group of people with early or intermediate AMD from the Northern Ireland Sensory Ageing study were included. 45 SNPs were included for PRS calculation.</p><p><strong>Results: </strong>A total of 470 participants with healthy macula were included (Beckman grade 0 or 1). The comparator group consisted of participants with early AMD (n = 87) or intermediate AMD (n = 48). All visual functions except metrics of central visual field assessment showed a significant decline with age in adjusted linear regression models. Rod intercept time (RIT) was the only visual function significantly associated with PRS with Beta = 0.12 (95% confidence interval: 0.01-0.23), P = 0.03. A PRS integrated model achieved the highest area under the receiver operating characteristic curve (AUC) of 0.803 (0.732 to 0.874) to distinguish between normal or increased RIT.</p><p><strong>Conclusions and relevance: </strong>We observed a significant decline in multiple visual functions with increasing age. However, PRS was significantly associated with RIT only, highlighting the genetic association of age-related decline in rod function.</p>","PeriodicalId":12125,"journal":{"name":"Eye","volume":" ","pages":"1508-1516"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}