JAMA ophthalmology最新文献

{"title":"Risk of Keratitis With EGFR Inhibitors Remains Controversial.","authors":"Shiuan-Tzuen Su, James C-C Wei","doi":"10.1001/jamaophthalmol.2024.3348","DOIUrl":"10.1001/jamaophthalmol.2024.3348","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"983-984"},"PeriodicalIF":7.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107522","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":"Disc Hemorrhages in Open-Angle Glaucoma-Between a Rock and a Hard Place?","authors":"Alice Verticchio Vercellin, Louis R Pasquale, Alon Harris","doi":"10.1001/jamaophthalmol.2024.3330","DOIUrl":"10.1001/jamaophthalmol.2024.3330","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"950-951"},"PeriodicalIF":7.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132757","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":"METTL23 Variants and Patients With Normal-Tension Glaucoma.","authors":"Todd E Scheetz,Mallory R Tollefson,Ben R Roos,Erin A Boese,Andrew E Pouw,Edwin M Stone,Michael J Schnieders,John H Fingert","doi":"10.1001/jamaophthalmol.2024.3829","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3829","url":null,"abstract":"ImportanceThis research confirms and further establishes that pathogenic variants in a fourth gene, METTL23, are associated with autosomal dominant normal-tension glaucoma (NTG).ObjectiveTo determine the frequency of glaucoma-causing pathogenic variants in the METTL23 gene in a cohort of patients with NTG from Iowa.Design, Setting, and ParticipantsThis case-control study took place at a single tertiary care center in Iowa from January 1997 to January 2024, with analysis occurring between January 2023 and January 2024. Two groups of participants were enrolled from the University of Iowa clinics: 331 patients with NTG and 362 control individuals without glaucoma. Patients with a history of trauma; steroid use; stigmata of pigment dispersion syndrome; exfoliation syndrome; or pathogenic variants in MYOC, TBK1, or OPTN were also excluded.Main Outcomes and MeasuresDetection of an enrichment of METTL23 pathogenic variants in individuals with NTG compared with control individuals without glaucoma.ResultsThe study included 331 patients with NTG (mean [SD] age, 68.0 [11.7] years; 228 [68.9%] female and 103 [31.1%] male) and 362 control individuals without glaucoma (mean [SD] age, 64.5 [12.6] years; 207 [57.2%] female and 155 [42.8%] male). There were 5 detected instances of 4 unique METTL23 pathogenic variants in patients with NTG. Three METTL23 variants-p.Ala7Val, p.Pro22Arg, and p.Arg63Trp-were judged to be likely pathogenic and were detected in 3 patients (0.91%) with NTG. However, when all detected variants were evaluated with either mutation burden analysis or logistic regression, their frequency was not statistically higher in individuals with NTG than in control individuals without glaucoma (1.5% vs 2.5%; P = .27).Conclusion and RelevanceThis investigation provides evidence that pathogenic variants in METTL23 are associated with NTG. Within an NTG cohort at a tertiary care center, pathogenic variants were associated with approximately 1% of NTG cases, a frequency similar to that of other known normal-tension glaucoma genes, including optineurin (OPTN), TANK-binding kinase 1 (TBK1), and myocilin (MYOC). The findings suggest that METTL23 pathogenic variants are likely involved in a biologic pathway that is associated with glaucoma that occurs at lower intraocular pressures.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"24 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324858","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":"A Competition for the Diagnosis of Myopic Maculopathy by Artificial Intelligence Algorithms.","authors":"Bo Qian,Bin Sheng,Hao Chen,Xiangning Wang,Tingyao Li,Yixiao Jin,Zhouyu Guan,Zehua Jiang,Yilan Wu,Jinyuan Wang,Tingli Chen,Zhengrui Guo,Xiang Chen,Dawei Yang,Junlin Hou,Rui Feng,Fan Xiao,Yihao Li,Mostafa El Habib Daho,Li Lu,Ye Ding,Di Liu,Bo Yang,Wenhui Zhu,Yalin Wang,Hyeonmin Kim,Hyeonseob Nam,Huayu Li,Wei-Chi Wu,Qiang Wu,Rongping Dai,Huating Li,Marcus Ang,Daniel Shu Wei Ting,Carol Y Cheung,Xiaofei Wang,Ching-Yu Cheng,Gavin Siew Wei Tan,Kyoko Ohno-Matsui,Jost B Jonas,Yingfeng Zheng,Yih-Chung Tham,Tien Yin Wong,Ya Xing Wang","doi":"10.1001/jamaophthalmol.2024.3707","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3707","url":null,"abstract":"ImportanceMyopic maculopathy (MM) is a major cause of vision impairment globally. Artificial intelligence (AI) and deep learning (DL) algorithms for detecting MM from fundus images could potentially improve diagnosis and assist screening in a variety of health care settings.ObjectivesTo evaluate DL algorithms for MM classification and segmentation and compare their performance with that of ophthalmologists.Design, Setting, and ParticipantsThe Myopic Maculopathy Analysis Challenge (MMAC) was an international competition to develop automated solutions for 3 tasks: (1) MM classification, (2) segmentation of MM plus lesions, and (3) spherical equivalent (SE) prediction. Participants were provided 3 subdatasets containing 2306, 294, and 2003 fundus images, respectively, with which to build algorithms. A group of 5 ophthalmologists evaluated the same test sets for tasks 1 and 2 to ascertain performance. Results from model ensembles, which combined outcomes from multiple algorithms submitted by MMAC participants, were compared with each individual submitted algorithm. This study was conducted from March 1, 2023, to March 30, 2024, and data were analyzed from January 15, 2024, to March 30, 2024.ExposureDL algorithms submitted as part of the MMAC competition or ophthalmologist interpretation.Main Outcomes and MeasuresMM classification was evaluated by quadratic-weighted κ (QWK), F1 score, sensitivity, and specificity. MM plus lesions segmentation was evaluated by dice similarity coefficient (DSC), and SE prediction was evaluated by R2 and mean absolute error (MAE).ResultsThe 3 tasks were completed by 7, 4, and 4 teams, respectively. MM classification algorithms achieved a QWK range of 0.866 to 0.901, an F1 score range of 0.675 to 0.781, a sensitivity range of 0.667 to 0.778, and a specificity range of 0.931 to 0.945. MM plus lesions segmentation algorithms achieved a DSC range of 0.664 to 0.687 for lacquer cracks (LC), 0.579 to 0.673 for choroidal neovascularization, and 0.768 to 0.841 for Fuchs spot (FS). SE prediction algorithms achieved an R2 range of 0.791 to 0.874 and an MAE range of 0.708 to 0.943. Model ensemble results achieved the best performance compared to each submitted algorithms, and the model ensemble outperformed ophthalmologists at MM classification in sensitivity (0.801; 95% CI, 0.764-0.840 vs 0.727; 95% CI, 0.684-0.768; P = .006) and specificity (0.946; 95% CI, 0.939-0.954 vs 0.933; 95% CI, 0.925-0.941; P = .009), LC segmentation (DSC, 0.698; 95% CI, 0.649-0.745 vs DSC, 0.570; 95% CI, 0.515-0.625; P < .001), and FS segmentation (DSC, 0.863; 95% CI, 0.831-0.888 vs DSC, 0.790; 95% CI, 0.742-0.830; P < .001).Conclusions and RelevanceIn this diagnostic study, 15 AI models for MM classification and segmentation on a public dataset made available for the MMAC competition were validated and evaluated, with some models achieving better diagnostic performance than ophthalmologists.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"44 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324857","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":"Crowdsourcing for Artificial Intelligence Models in Ophthalmology.","authors":"Shahin Hallaj,Niloofar Radgoudarzi,Sally L Baxter","doi":"10.1001/jamaophthalmol.2024.3778","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3778","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"6 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324855","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":"Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.","authors":"Ehsan Ullah,Siying Lin,Jiaxiong Lu,Chelsea Bender,Andrew R Webster,Samantha Malka,Savita Madhusudhan,Emma Rees,Denise Williams,Aime R Agather,Catherine A Cukras,Robert B Hufnagel,Rui Chen,Laryssa A Huryn,Gavin Arno,Bin Guan","doi":"10.1001/jamaophthalmol.2024.3836","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3836","url":null,"abstract":"ImportanceInherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.ObjectiveTo provide a clinical and molecular characterization of 6 patients with IRDs with biallelic disease-causing variants in a novel candidate IRD disease gene.Design, Setting, and ParticipantsThis multicenter case series study included 6 patients with IRDs from 4 tertiary hospitals (in the US: National Eye Institute, National Institutes of Health Clinical Center; in the UK: Moorfields Eye Hospital, Royal Liverpool University Hospital, Birmingham Women's and Children's).ExposuresBiallelic disease-causing variants in the novel candidate IRD disease gene, UBAP1L.Main Outcome and MeasuresParticipants underwent comprehensive clinical ophthalmic assessments to characterize the features of retinal dystrophy. Exome and genome sequencing revealed candidate variants in the UBAP1L gene; no other plausible disease variants in known IRD genes were identified. A minigene assay provided functional insights for a noncanonical splice variant, and a knockout mouse model was used for in vivo functional elucidation.ResultsFour homozygous UBAP1L variants were identified in the affected individuals from 6 families, including 2 frameshift variants (c.710del and c.634_644del), 1 canonical splice variant (c.121-2A>C), and 1 noncanonical splice variant (c.910-7G>A), which was shown to cause aberrant splicing and frameshift in a minigene assay. Participants presented with retinal dystrophy including maculopathy, cone dystrophy, and cone-rod dystrophy. Single-cell RNA sequencing of the retina showed that human UBAP1L is highly expressed in both cones and retinal pigment epithelium, whereas mouse Ubap1l is highly expressed in cone cells only. Mice with truncation of the C-terminal SOUBA domain did not manifest retinal degeneration up to 15 months of age.Conclusions and RelevanceStudy results reveal clinical and genetic evidence that loss of UBAP1L function was associated with inherited retinopathy in humans. These findings hold promise for improved clinical diagnostics, prognosis, and the potential development of targeted therapies for individuals affected by IRDs.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"32 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324856","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 to Reduce Disparities in Ophthalmology.","authors":"Roomasa Channa, Fasika Woreta","doi":"10.1001/jamaophthalmol.2024.3837","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3837","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287376","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":"Untreated Vision Loss as a Modifiable Dementia Risk Factor.","authors":"Joshua R Ehrlich","doi":"10.1001/jamaophthalmol.2024.3991","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3991","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287377","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":"Detection and Referral of Depression in Patients With Visual Impairment: A Call for Practical Training and Methods.","authors":"Byron L Lam","doi":"10.1001/jamaophthalmol.2024.3779","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3779","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287374","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":"Potential Gaps in Eye Care Based on Evaluation of Federally Qualified Health Centers","authors":"Nikhita Yadlapalli, Ruby Hollinger, Shannan Berzack, Daniela Spies, Annika Patel, Jayanth Sridhar","doi":"10.1001/jamaophthalmol.2024.3569","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.3569","url":null,"abstract":"ImportanceFederally qualified health centers (FQHCs) are federally funded community health clinics that provide comprehensive care to underserved populations, making them potential opportunities to offer eye care and address unmet health care needs. Evaluating the presence of eye care services at FQHCs in Florida is important in understanding and addressing possible gaps in care for the state’s large uninsured and underserved populations.ObjectiveTo determine whether FQHCs in Florida are currently offering eye care services, where they are available, what services are being offered, and who provides them.Design, Setting, and ParticipantsThis study used a cross-sectional design conducted within 1 year (from November 2023 to February 2024). FQHCs listed in the US Health Resources and Services Administration database were contacted by telephone to inquire about the presence of eye care services. The FQHCs were located in both urban and rural areas in Florida to assess accessibility of eye care services in the state. School-based health centers and nonophthalmic specialty care health centers were excluded. A total of 437 FQHCs were included.Main Outcomes and MeasuresPrimary outcomes included the presence of eye care services, types of services offered, clinician type (optometrists or ophthalmologists), frequency of services, and availability of pediatric services.ResultsAmong 437 FQHCs contacted, only 39 (8.9%) reported offering eye care services. These services primarily included vision examinations, glasses prescriptions, and dilated eye examinations. Optometrists were the primary providers of services at all clinics, with no clinics reporting care by ophthalmologists. The frequency of services varied considerably, ranging from daily to bimonthly. Thirty-seven (94.9%) of the 39 clinics offered pediatric eye care services.Conclusions and RelevanceThe low prevalence of FQHCs with eye care services and the absence of ophthalmologist-provided care highlight a gap in access to eye care for underserved populations in Florida. These findings support investigations into implementing eye care services and interventions at FQHCs that might enhance access and equity in eye care.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142275624","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}