JAMA ophthalmology最新文献

{"title":"Bilateral Retinal Detachments in a Previously Healthy 19-Year-Old","authors":"Param Bhatter, Eric Jung, Danny A. Mammo","doi":"10.1001/jamaophthalmol.2025.0112","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.0112","url":null,"abstract":"A 19-year-old man was referred for evaluation of bilateral retinal detachments. Imaging demonstrated subretinal and intraretinal fluid in the macula of both eyes with no choroidal masses. What would you do next?","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"124 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143618327","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":"Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity","authors":"Siyin Liu, Amanda N. Sadan, Nihar Bhattacharyya, Christina Zarouchlioti, Anita Szabo, Marcos Abreu Costa, Nathaniel J. Hafford-Tear, Anne-Marie S. Kladny, Lubica Dudakova, Marc Ciosi, Ismail Moghul, Mark R. Wilkins, Bruce Allan, Pavlina Skalicka, Alison J. Hardcastle, Nikolas Pontikos, Catey Bunce, Darren G. Monckton, Kirithika Muthusamy, Petra Liskova, Stephen J. Tuft, Alice E. Davidson","doi":"10.1001/jamaophthalmol.2025.0109","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.0109","url":null,"abstract":"ImportanceUnderstanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies.ObjectiveTo investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort.Design, Setting, and ParticipantsThis retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023. Ancestry was inferred from genome-wide single nucleotide polymorphism array data. CTG18.1 status was determined by short tandem repeat and/or triplet-primed polymerase chain reaction. One or more expanded alleles (≥50 repeats) were classified as expansion-positive (Exp+). Expansion-negative (Exp-) cases were exome sequenced.Main Outcomes and MeasuresAssociation between variants in FECD-associated genes, demographic data, and age at first keratoplasty.ResultsWithin the total cohort (n = 894), 77.3% of patients were Exp+. Most European (668 of 829 [80.6%]) and South Asian (14 of 22 [63.6%]) patients were Exp+. The percentage of female patients was higher (151 [74.4%]) in the Exp- cohort compared to the Exp+ cohort (395 [57.2%]; difference, 17.2%; 95% CI, 10.1%-24.3%; <jats:italic>P</jats:italic> &amp;amp;lt; .001). The median (IQR) age at first keratoplasty of the Exp + patients (68.2 years [63.2-73.6]) was older than the Exp- patients (61.3 years [52.6-70.4]; difference, 6.5 years; 95% CI, 3.4-9.7; <jats:italic>P</jats:italic> &amp;amp;lt; .001). The CTG18.1 repeat length of the largest expanded allele within the Exp+ group was inversely correlated with the age at first keratoplasty (β, −0.087; 95% CI, −0.162 to −0.012; <jats:italic>P</jats:italic> = .02). The ratio of biallelic to monoallelic expanded alleles was higher in the FECD cohort (1:14) compared to an unaffected control group (1:94; <jats:italic>P</jats:italic> &amp;amp;lt; .001), indicating that 2 Exp+ alleles were associated with increased disease penetrance compared with 1 expansion. Potentially pathogenic variants (minor allele frequency, &amp;amp;lt;0.01; combined annotation dependent depletion, &amp;amp;gt;15) were only identified in FECD-associated genes in 13 Exp- individuals (10.1%).Conclusions and RelevanceIn this multicenter cohort study among individuals with FECD, CTG18.1 expansions were present in most European and South Asian patients, while CTG18.1 repeat length and zygosity status were associated with modifications in disease severity and penetrance. Known disease-associated genes accounted for only a minority of Exp- cases, with unknown risk factors associated with disease in the rest of this subgroup. These data may have implications for future FECD gene-targeted therapy development.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"213 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143618391","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":"Federally Qualified Health Centers as a Model to Improve Vision Health: A Systematic Review.","authors":"Patricia Bai, Spencer S Burt, Maria A Woodward, Scott Haber, Paula Anne Newman-Casey, Jeffrey D Henderer, R V Paul Chan, Aiyin Chen","doi":"10.1001/jamaophthalmol.2024.6264","DOIUrl":"10.1001/jamaophthalmol.2024.6264","url":null,"abstract":"<p><strong>Importance: </strong>Disparities in eye health are associated with lower-income and minoritized populations, many of whom seek care at federally qualified health centers (FQHCs).</p><p><strong>Objective: </strong>To examine the literature addressing vision and eye health care provided at FQHCs, identify barriers to providing care at FQHCs, and highlight recommendations on how FQHCs can decrease disparities in eye health.</p><p><strong>Evidence review: </strong>A systematic review of Embase, SCOPUS, and PubMed was performed, and articles regarding eye and vision health at FQHCs within the US published between January 1, 1965, and July 14, 2023, were included. This review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Structured data and case studies were extracted and collated using an a priori method to reduce bias.</p><p><strong>Findings: </strong>The systematic review yielded 423 unique articles, with 43 meeting inclusion criteria. Only 18.3% to 29% of FQHCs reported on-site vision services with the remainder relying on external referrals to vision specialists. Primary eye conditions evaluated included diabetic retinopathy (26 studies), general eye health (11 studies), and glaucoma (6 studies). Telehealth vision initiatives were an important method to expand access (18 studies). Other topics included economic analysis (5 studies) and policy suggestions (3 studies) to increase vision services at FQHCs. Systemic barriers to accessing care at FQHCs were the lack of eye clinicians available to provide services, the cost of resources, and limited reimbursement to implement screening programs. Patient barriers to accessing care included financial constraints for specialist care, limited awareness of the importance of eye examinations, and difficulty navigating the insurance system.</p><p><strong>Conclusions and relevance: </strong>Findings of this systematic review suggest that FQHCs are well positioned to increase vision services and thus improve vision health equity, serving populations who are at a higher risk for vision disorders. Results find systemic and patient-level barriers to vision health that may need to be addressed. Policy leaders could leverage existing gaps for purposeful advocacy, set standards and metrics for vision health at FQHCs, promote novel models of care, and encourage collaboration of eye clinicians with partnering FQHCs.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"242-251"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407735","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":"JAMA Ophthalmology.","authors":"","doi":"10.1001/jamaophthalmol.2024.4162","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.4162","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"143 3","pages":"194"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662548","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":"Error in Methods and eTable 1.","authors":"","doi":"10.1001/jamaophthalmol.2025.0060","DOIUrl":"10.1001/jamaophthalmol.2025.0060","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"261"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255663","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}

{"title":"Can Medicare Data Describe COVID-19 Practice Pattern Changes?","authors":"Sean T Berkowitz, Avni P Finn","doi":"10.1001/jamaophthalmol.2024.6183","DOIUrl":"10.1001/jamaophthalmol.2024.6183","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"213-214"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255476","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":"Hyperacute Outer Retinal Dysfunction-A Retina on Fire.","authors":"Timothy M Boyce, Ian C Han","doi":"10.1001/jamaophthalmol.2024.6488","DOIUrl":"10.1001/jamaophthalmol.2024.6488","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"230-231"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407747","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":"Generative Artificial Intelligence Guidelines of Ophthalmology Journals.","authors":"David E Rabinovitch, Jim S Xie, Adrien Lusterio, Andrew Mihalache, Marko M Popovic, Prashant D Tailor, Brendan Tao, Edward Margolin","doi":"10.1001/jamaophthalmol.2024.6229","DOIUrl":"10.1001/jamaophthalmol.2024.6229","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"256-260"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11826427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407737","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}

{"title":"Importance of Thickness When Evaluating Choroidal Tumors.","authors":"Carol L Shields","doi":"10.1001/jamaophthalmol.2024.6182","DOIUrl":"10.1001/jamaophthalmol.2024.6182","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"240-241"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255669","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":"Hyperacute Outer Retinal Dysfunction.","authors":"Yizhe Cheng, Xinyu Liu, Jinglin Lu, Jianing Ren, Ping Fei, Meini Chen, Changting Tang, Jianping Zhang, Minglian Zhang, Miner Yuan, Limei Sun, Linyan Zhang, Aohan Hou, Yili Jin, Yanting Lai, Qiong Wang, Wenjia Yan, Shuya Ke, Xiaoxin Li, Xiaoyan Ding","doi":"10.1001/jamaophthalmol.2024.6372","DOIUrl":"10.1001/jamaophthalmol.2024.6372","url":null,"abstract":"<p><strong>Importance: </strong>Pattern recognition of pediatric retinal diseases can streamline the workup and guide the prognosis.</p><p><strong>Objective: </strong>To characterize the clinical features, retinal imaging findings, and 1-year prognosis of pediatric patients who experienced sudden, severe bilateral vision loss with diffuse ellipsoid zone (EZ) and external limiting membrane (ELM) disruptions after fever.</p><p><strong>Design, setting, and participants: </strong>This multicenter case series included 8 pediatric patients (16 eyes) who presented with an unusual set of clinical symptoms, including sudden, severe bilateral vision loss; nyctalopia; and diffuse EZ and ELM disruptions, subsequent to a febrile illness. The patients visited or were referred to a pediatric retina service between November 2022 and May 2023.</p><p><strong>Main outcome measures: </strong>Changes in visual acuity, visual field, electroretinography (ERG) results, and presence of characteristic retinal imaging signs during follow-up.</p><p><strong>Results: </strong>A total of 16 eyes from 8 children (6 boys and 2 girls) were included in this study; the patients' mean (SD) age was 5.1 (1.2) years (range, 3-7 years; median, 5.0 years). Their sudden bilateral vision loss occurred a mean of 16.1 days after fever onset. Initial symptoms included sudden vision loss, visual field constriction, nyctalopia, and dyschromatopsia. Baseline visual acuity was predominantly below counting fingers. A sudden, diffuse loss of the EZ and ELM was observed in all eyes with gradual recovery beginning around the fourth week. After 1 year, visual acuity showed substantial improvement in most cases, with 7 of 8 patients (88%) achieving 20/40 or better, including 4 patients (50%) achieving 20/25 or better. The macular EZ and ELM appeared intact in 12 eyes (75%) and 14 eyes (88%), respectively, while the extrafoveal regions remained absent of EZ and ELM. ERG revealed extinguished cone and rod responses in 8 patients (100%), and multifocal ERG remained extinguished despite the recovery of visual acuity in all 8 patients (100%).</p><p><strong>Conclusions and relevance: </strong>This case series identifies a potentially underrecognized disease in pediatric patients after fever characterized by sudden vision loss, diffuse EZ and ELM disruption, and distinct retinal imaging features. The term hyperacute outer retinal dysfunction is recommended as descriptive while further investigations are recommended to better understand its pathophysiology and optimal management strategies.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"222-229"},"PeriodicalIF":7.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11826433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407743","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}