JAMA ophthalmology最新文献

{"title":"Dry Eye Disease Therapies at a Crossroads—A Call for Reform","authors":"Esen K. Akpek, Meron Haile, John Gonzales, Sandeep Jain","doi":"10.1001/jamaophthalmol.2026.3983","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3983","url":null,"abstract":"This Viewpoint discusses current approval pathways for dry eye disease medications and the need to advance the standard of evidence for these medications.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"10 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148985111","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":"Outcomes of As-Needed Aflibercept Treatment After Complete Regression in Polypoidal Choroidal Vasculopathy","authors":"Voraporn Chaikitmongkol, Pawinee Boonyot, Direk Patikulsila, Pear Ferreira Pongsachareonnont, Pichai Jirarattanasopa, Suthasinee Sinawat, Nuntachai Surawatsatien, Mansing Ratanasukon, Janejit Choovuthayakorn, Paradee Kunavisarut, Onnisa Nanegrungsunk, Atitaya Apivatthakakul, Naphasorn Sirimaharaj, Apisara Sangkaew, Thammasin Ingviya, Neil M. Bressler","doi":"10.1001/jamaophthalmol.2026.3927","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3927","url":null,"abstract":"Importance Complete polypoidal regression (termed <jats:italic toggle=\"yes\">regression</jats:italic> ) is a treatment goal in polypoidal choroidal vasculopathy (PCV), a common cause of vision loss globally. However, outcomes are controversial when treatments continue as fixed-dosing, treat-and-extend, or as-needed (PRN) regimens once regression is achieved. Objective To determine outcomes using PRN regimens after achieving complete polypoidal regression following an initial treatment of 3 or 6 monthly intravitreal anti–vascular endothelial growth factor injections in eyes with PCV. Design, Setting, and Participants This prospective cohort study took place at 4 university hospitals in Thailand. Eighty-one treatment-naive participants with PCV received 3 monthly aflibercept 2.0-mg injections. At week 12, eyes with regression underwent PRN treatment and follow-up monthly during year 1 and bimonthly during year 2. Eyes without regression at week 12 received 3 additional monthly injections and if regressed at week 24, also underwent PRN treatment and follow-up monthly through year 1 and bimonthly follow-up through year 2. Eyes without regression through week 24 received treat-and-extend regimens. These data were analyzed from August 2020 to September 2025. Main Outcomes and Measures Fluid-free interval between first visit with regression and first exudative recurrence on optical coherence tomography (OCT) by life-table analyses. Results Of 81 study eyes, mean [SD] age was 64 [8] years; 54% were female and 46% were male; 32 (40%) achieved regression at week 12 or 24. Of 26 eyes with regression, 13 (50%; 95% CI, 30%-70%) recurred within 2 years. Fluid-free probability after regression was 57% (95% CI, 37%-77%) at week 24 and 53% (95% CI, 33%-73%) at week 84. Among 14 eyes with recurrence, median best-corrected visual acuity change from the prior visit was −3.5 letters (IQR, −5.0 to −0.25); 3 (21%; 95% CI, 5%-51%) lost 10 or more letters, and 5 (36%; 95% CI, 13%-65%) had new hemorrhage. Post hoc exploratory analyses of eyes with complete polypoidal regression showed baseline massive subretinal hemorrhage had lower recurrence (hazard ratio [HR], 0.18; 95% CI, 0.04-0.80; <jats:italic toggle=\"yes\">P</jats:italic> = .01). In contrast, leakage without subretinal hemorrhage may have had a higher hazard of recurrence (HR, 2.65; 95% CI, 0.89-7.94; <jats:italic toggle=\"yes\">P</jats:italic> = .07). Conclusions and Relevance In this study, half of the eyes with PCV achieved complete polypoidal regression remained quiescent after treatment deferral, whereas the remainder recurred. Posttreatment OCT biomarkers may help identify eyes that could benefit from continued treatment instead of PRN management.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"58 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148985112","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":"Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1","authors":"Chloe M. Stanton, Georg Ansari, Kristina Pfau, Theresa Lipsky, Mihail Halachev, Lukas Gerasimavicius, Camilla Drake, Joseph A. Marsh, Caroline Hayward, Alexander Sumaroka, Bohdan Kousal, Petra Lišková, Mathieu Quinodoz, Carlo Rivolta, Tomas S. Aleman, Artur V. Cideciyan, Maximilian Pfau","doi":"10.1001/jamaophthalmol.2026.3828","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3828","url":null,"abstract":"Importance Doyne honeycomb retinal dystrophy or malattia leventinese (DHRD/ML) is an autosomal dominant retinal disorder caused by a single recurrent p.Arg345Trp (NM_001039348.3:c.1033C&amp;amp;gt;T) variant in &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; and characterized by early-onset, nearly confluent, large central retinal drusen. Other variants in &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; have not been reported to cause retinal disease. Objective To define the topography of the anatomical and functional phenotype of another variant in &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; , p.Arg140Trp (c.418C&amp;amp;gt;T), associated with retinal degeneration. Design, Setting, and Participants This multi-institutional case series was conducted at 3 inherited retinal disease clinics (Philadelphia, Pennsylvania; Basel, Switzerland; and Prague, Czech Republic) from October 1998 to May 2026. Participants included 3 unrelated families with the p.Arg140Trp variant and 1 comparator family with canonical DHRD/ML caused by the p.Arg345Trp variant. Analyses were conducted from November 2019 to May 2026. Exposure Heterozygosity for pathogenic &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; variants. Main Outcomes and Measures Color fundus photography and optical coherence tomography, light- and dark-adapted chromatic perimetry, and rod-mediated dark adaptation kinetics. Results The &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; p.Arg140Trp variant segregated with disease in all 3 families. In family 1, the index case developed nyctalopia in the sixth decade with progressive field loss and abnormal ERG. Among 5 at-risk relatives (ages 50 to 58 years), 4 heterozygous carriers had delayed rod-mediated dark adaptation kinetics despite best-corrected visual acuity of 20/20 OU and normal fundus appearance; the noncarrier had normal imaging and function. Additional heterozygous carriers from families 2 (age 42 years; symptom onset at 40 years) and 3 (age 69 years; symptom onset at 55 years) had nyctalopia and peripheral lobular chorioretinal atrophy initially labeled gyrate atrophy-like or choroideremia-like. Topographically matched testing in temporal retina without visible atrophy showed severe rod dysfunction and markedly delayed dark adaptation at 15°, 30°, and 46° with increasing severity toward the periphery. For comparison, the patient with DHRD/ML exhibited normal light- and dark-adapted visual function outside the central 10° and an increasing delay in rod recovery kinetics toward the fovea. Conclusions and Relevance This study found that the &lt;jats:italic toggle=\"yes\"&gt;EFEMP1&lt;/jats:italic&gt; p.Arg140Trp variant was associated with a late-onset, predominantly peripheral retinal degeneration with features overlapping the late-onset retinal degeneration phenotype and was distinct from canonical DHRD/ML; it spares relatively central macular structure and function while preferentially affecting the periphery. Functional evidence suggests preferential rod in","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922739","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":"Why Metrics Matter in Thyroid Eye Disease","authors":"Michael Kazim, Lelio Baldeshi, A. Augusto Cruz, Peter J. Dolman, Chrysoula Dosiou, Anja Eckstein, Don Kikkawa, Andrea L. Kossler, Louise A. Mawn, Naykky Singh Ospina, Petros Perros, Daniel B. Rootman, Mario Salvi, Marius N. Stan, Timothy J. Sullivan, Sara T. Wester","doi":"10.1001/jamaophthalmol.2026.3823","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3823","url":null,"abstract":"Importance Advances in the understanding of the pathophysiology of thyroid eye disease (TED) provide an opportunity to use novel, targeted therapeutic agents. However, our capacity to assess the efficacy and indications for the new agents is potentially limited by the clinical metrics used in recent research trials, which fail to adequately capture the clinical complexity and diversity of TED. Objectives To review the features of TED that make it atypical among autoimmune diseases, review the limitations of the currently available metrics, and introduce the Innovate TED Initiative to develop new outcome metrics. Conclusions and Relevance To best evaluate and use potential new therapeutic agents for TED, physicians with expertise in the field perceive the need for a novel set of metrics. The outlined Innovate TED Initiative can, through the design and execution of prospective validation studies, develop the requisite metrics for the mutual benefit of physicians, regulatory bodies, the pharmaceutical industry, and patients with TED.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"5 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922751","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":"Uveal Hypopigmentation Revealing Waardenburg Syndrome","authors":"Salaam Botros, Antonio Bechara Ghobril, Carol L. Shields","doi":"10.1001/jamaophthalmol.2026.3756","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3756","url":null,"abstract":"This case report discusses a clinical diagnosis of Waardenburg syndrome type II in a woman aged 69 years who presented with bilateral iris and choroidal hypopigmentation and hyperpigmentation and a history of congenital deafness, iris heterochromia, and a gray hair patch since birth.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"63 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922775","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":"Event-Based Progression Detection Among OCT, OCT Angiography, and Visual Field in Glaucoma","authors":"Melika Hashemi, Takashi Nishida, Sasan Moghimi, Ghazaleh Soltani, Amelia de Oliveira Pereira, Gizem Dogan Gokce, Mauro Gobira, Linda M. Zangwill, Robert N. Weinreb","doi":"10.1001/jamaophthalmol.2026.3545","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3545","url":null,"abstract":"Importance Early detection of glaucoma progression is essential. Optical coherence tomography angiography (OCTA) vascular metrics may identify progression before structural OCT or visual field changes. Objective To evaluate timing and agreement of event-based progression detection among OCT, OCTA, and visual field testing in glaucoma. Design, Setting, and Participants This was a retrospective cohort study designed in August 2024. Included were patients from the Diagnostic Innovations in Glaucoma Study (DIGS) who underwent OCT and OCTA imaging and visual field testing from January 2015 to April 2023. Inclusion required 2 or more years of follow-up and 4 or more visits with each modality. Exposures OCT, OCTA, and visual field testing. Main Outcomes and Measures OCT and OCTA progression were defined as change exceeding test-retest variability thresholds at 2 consecutive visits; visual field progression was assessed with guided progression analysis. Progression rates and lead times were compared. Results A total of 180 eyes (111 perimetric, 69 preperimetric) from 116 patients (mean [SD] age, 67.6 [13.7] years; 61 female [52.6%]) were included in this analysis. During mean (SD) follow-up of 5.1 (1.4) years, 107 eyes (59.4%) had progression detected by at least 1 modality as follows: 58 eyes (32.2%) by OCTA vessel density, 45 eyes (25.0%) by OCT circumpapillary retinal nerve fiber layer (CPRNFL) thickness, and 59 eyes (32.8%) by visual field testing. Among eyes with progression, the earliest detection occurred with OCTA vessel density in 40 eyes (37.4%), OCT CPRNFL thickness in 32 eyes (29.9%), and visual field testing in 26 eyes (24.3%). Among 45 stable eyes, specificity was 75.6% for OCT CPRNFL thickness and 68.9% for OCTA vessel density. Mean lead times were 2.3 years for OCTA vessel density before visual field progression (95% CI, 1.3-3.2 years), 1.5 years for OCT CPRNFL thickness before visual field progression (95% CI, 0.6-2.4 years), and 0.2 years for OCT CPRNFL thickness vs OCTA vessel density (95% CI, −0.6 to 0.9 years). Conclusions and Relevance Results of this cohort study suggest that OCTA vessel density may detect event-based glaucoma progression earlier than OCT or visual field testing at the cost of a slight decrease in specificity compared with OCT. These findings support a potential complementary role for OCTA in glaucoma monitoring, although the cost-benefit of additional testing requires further evaluation.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"23 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148884003","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":"Lipemia Retinalis Reversal in Familial Partial Lipodystrophy","authors":"Benjamin Blackburn, Mohamed Dembele, M. Dominik Fischer","doi":"10.1001/jamaophthalmol.2026.3568","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3568","url":null,"abstract":"This case report describes a diagnosis of lipemia retinalis in a woman aged 27 years with creamy discoloration of the retinal vessels on fundus examination and markedly elevated serum triglyceride levels.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"17 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148883656","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":"Longitudinal Trajectories of 3-Dimensional Eye Shape and Pathological Sequelae in High Myopia","authors":"Shida Chen, Yunqian Li, Meng Xuan, Ruilin Xiong, Shaoying Tan, Wei Wang","doi":"10.1001/jamaophthalmol.2026.3684","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3684","url":null,"abstract":"Importance The highly myopic eye remodels in 3 dimensions, but the longitudinal trajectories of globe shape and their associations with sight-threatening outcomes remain poorly defined. Objective To characterize 15-year 3-dimensional (3D) remodeling trajectories of highly myopic globes and examine their associations with baseline features and ocular outcomes. Design, Setting, and Participants This 15-year 3D magnetic resonance imaging (MRI) cohort substudy was nested within the Zhongshan High Myopia Cohort. Thirty participants (60 eyes) with bilateral high myopia (spherical equivalent refraction, −6.00 D or worse) randomly drawn from 95 participants imaged in September 2011 were rescanned in September 2025. Exposures Orbital 3D MRI reconstructions were classified into 6 globe-shape categories. Paired classifications, global enlargement, and staphyloma status defined 5 remodeling patterns: quiescence, proportional expansion, focal emergence, focal progression, and shape transition. Main Outcomes and Measures Distribution of remodeling patterns and their associations with myopic macular degeneration (MMD), myopic traction maculopathy (MTM), posterior staphyloma (PS), visual acuity, and visual field indices. Results Among the 30 included participants, the mean (SD) age was 37.30 (15.89) years, and 16 (53.3%) participants were women. The 60 eyes were classified as quiescent (21 [35.0%]), proportional expansion (12 [20.0%]), focal emergence (14 [23.3%]), focal progression (6 [10.0%]), or shape transition (7 [11.7%]). No deformed eye reverted to spheroidal. Pattern distribution was associated with baseline age and contour: 10 of 12 eyes (83.3%) of individuals younger than 20 years underwent proportional expansion, whereas 13 of 24 eyes (54.2%) of individuals aged 40 years and older followed focal progression or shape transition. Eyes with focal emergence had the largest best-corrected visual acuity decline (0.26 logMAR) and mean deviation worsening (−3.50 dB), and eyes with shape transition had the largest pattern standard deviation increasing (1.95 dB). At similar axial elongation, eyes developing focal deformation had higher frequencies of MMD progression (91.7%; 95% CI, 74.2-97.7 vs 58.8%; 95% CI, 36.0-78.4; <jats:italic toggle=\"yes\">P</jats:italic> = .02), incident or progressive PS (91.7%; 95% CI, 74.2-97.7 vs 17.6%; 95% CI, 6.2-41.0; <jats:italic toggle=\"yes\">P</jats:italic> &amp;amp;lt; .001), and MTM (58.3%; 95% CI, 38.8-75.5 vs 11.8%; 95% CI, 3.3-34.3; <jats:italic toggle=\"yes\">P</jats:italic> = .003). Conclusions and Relevance Highly myopic globes followed age- and geometry-associated trajectories linked to outcomes beyond axial elongation. These 2–time-point findings potentially support 3D shape analysis as a candidate framework for individualized surveillance, pending prospective validation.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"57 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148883657","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":"Patient With Bilateral Corneal Opacities","authors":"John Placide, Daniel J. Lee, Afshan A. Nanji","doi":"10.1001/jamaophthalmol.2026.3540","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.3540","url":null,"abstract":"A 31-year-old woman from Guam with no known medical history was referred by an ophthalmologist to a US cornea clinic for bilateral progressive blurred vision and corneal opacities. What would you do next?","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"12 1 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148883655","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 Discussion.","authors":"","doi":"10.1001/jamaophthalmol.2026.2772","DOIUrl":"10.1001/jamaophthalmol.2026.2772","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"882"},"PeriodicalIF":10.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148411756","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}