JAMA ophthalmology最新文献

{"title":"Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.","authors":"Manar Salameh,Ghadeer Abu Tair,Samira Mousa,Alexey Obolensky,Anand Swaroop,Susanne Roosing,Eedy Mezer,Shiri Soudry,Marianthi Karali,Francesca Simonelli,Sandro Banfi,Eyal Banin,Tamar Ben-Yosef,Dror Sharon,Samer Khateb","doi":"10.1001/jamaophthalmol.2025.2187","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2187","url":null,"abstract":"ImportanceUncovering the genetic basis of inherited retinal diseases (IRDs) can enhance both diagnostic accuracy and the development of targeted treatment strategies.ObjectiveTo evaluate the association between a homozygous nonsense variant in CREB3 with IRDs.Design, Setting, and ParticipantsThirteen patients with a clinical diagnosis of retinitis pigmentosa or cone-rod degeneration were analyzed by whole-genome sequencing (WGS) and whole-exome sequencing (WES). Clinically, patients presented with 2 main phenotypes, rod-cone and cone-rod dystrophies, demonstrating variable electrophysiological and fundoscopic findings. Expression analysis was performed on patient-derived skin fibroblasts using the reverse transcription-polymerase chain reaction and Western blot analysis, and by interrogating previously published retinal single-cell RNA sequence data. Immunohistochemistry staining was performed on wild-type mouse retinal sections using an anti-CREB3 antibody. Patients with variable phenotypes of IRDs were recruited from 3 medical centers in Israel and Italy. Ophthalmologists clinically diagnosed patients at the relevant medical centers and referred them for genetic screening. WES and WGS were performed at different national and international centers, and the findings of the previously unreported gene were shared between investigators.ExposuresCREB3 and IRDs.Main Outcomes and MeasuresThe main outcome was evidence supporting an association between CREB3 and IRD. Measures included WES, WGS, and immunohistochemistry staining.ResultsA founder homozygous nonsense variant in CREB3 (c.881G>A, p.Trp294*) was identified in 13 patients from 4 unrelated families; 12 descendent from North-African Jewish origins and 1 from Italian origins. All patients manifested retinal degeneration with varying ages at onset. In patient-derived fibroblasts, the variant mRNA transcript generated a truncated CREB3 protein. Expression analysis and immunohistochemistry staining revealed CREB3 RNA and protein expression in various retinal cell types, indicating its vital role in photoreceptor function.Conclusions and RelevanceThis study found an association between CREB3 and IRDs. CREB3 was previously shown to be upregulated following ultraviolet radiation. This might contribute to the extensive clinical variability observed in this relatively large cohort of homozygous patients with the same truncated variant.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"13 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144645823","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":"Founder Homozygous CREB3 Variant Behind Retinal Degeneration.","authors":"Shlomit Jaskoll,Ravid Ben-Avi,Itay Chowers","doi":"10.1001/jamaophthalmol.2025.2320","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2320","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"74 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144645822","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":"Triamcinolone Acetonide-Wrapped Silicone Oil in the Anterior Chamber.","authors":"Kai Zhu,Yonghao Gu","doi":"10.1001/jamaophthalmol.2025.1531","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.1531","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"6 1","pages":"e251531"},"PeriodicalIF":8.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144645818","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":"Corneal Clouding in a 74-Year-Old Man.","authors":"John M Nesemann,M Aurel Nagy,Julie M Schallhorn","doi":"10.1001/jamaophthalmol.2025.2179","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2179","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"678 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144645847","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":"String of Pearls of the Eyelid in a Child Aged 9 Years.","authors":"Gitesh U Sawatkar,Kanishk Singh,Arjun Prakashey","doi":"10.1001/jamaophthalmol.2025.1509","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.1509","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"22 1","pages":"e251509"},"PeriodicalIF":8.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144645816","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":"Ophthalmic Knowledge Assessment Program Scores and Written Qualifying Examination Performance.","authors":"Chanon Thanitcul,Sarah Schnabel,George B Bartley,Andrew G Lee,Hally Crump,Dale E Fajardo,Kathryn Peters,Beth Wilson,Divya Srikumaran","doi":"10.1001/jamaophthalmol.2025.1933","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.1933","url":null,"abstract":"ImportanceThe Ophthalmic Knowledge Assessment Program (OKAP) has been widely used to determine readiness to take the high-stakes Written Qualifying Examination (WQE). However, it is unclear how well OKAP performance can predict WQE outcomes.ObjectiveTo examine the association between the OKAP and WQE nationally.Design, Setting, and ParticipantsThis was a retrospective cohort study conducted from 2017 to 2022. This national data analysis included residents from ophthalmology residency programs in the US. Study data were analyzed June 2023 to December 2024.ExposuresOKAP and WQE data.Main Outcomes and MeasuresThe national OKAP examination data and the WQE data were matched. Candidates who had complete data for the OKAP during postgraduate year (PGY) 2, 3, and 4 and completed the WQE were included in the study. Two-sample t tests, logistic regression analysis, receiver operating characteristic curves, and confusion matrix were used to examine the association of various test scores (PGY-2 OKAP, PGY-3 OKAP, PGY-4 OKAP, minimum OKAP, maximum OKAP, average OKAP) as predictors for WQE outcomes (pass or fail). Multiple logistic regression analyses were also used to assess the association of gender, time since graduation, program size, and WQE pass/fail outcomes.ResultsA total of 1597 residents (907 male [56.8%]) from 117 residency programs were included in this study. First-time pass rate of the WQE was 89% (1418 of 1597 residents). OKAP scores, particularly average OKAP, maximum OKAP, and PGY-4 OKAP scores (all had area under the curve = 0.88), were the most useful predictor of WQE outcomes. PGY-4 OKAP scores were used for the rest of the analysis for simplicity. A PGY-4 OKAP scaled score of 550 corresponded to 94% of candidates passing the WQE. Using PGY-4 OKAP scores to predict passing/failing, the WQE had 90.7% accuracy. Gender (odds ratio [OR], 1.50; 95% CI, 1.01-2.26; P = .048), program size (OR, 1.55; 95% CI, 0.98-2.41; P = .06), and time since residency graduation (OR, 1.00; 95% CI, 1.00-1.00; P = .14) were not included in the logistic regression model investigating the association of PGY-4 OKAP scores with the likelihood of passing the WQE.Conclusions and RelevanceResults suggest that OKAP examination scores were associated with passing the WQE after adjusting for program size, gender, and time since residency graduation. Further analyses may be warranted to predict failing the WQE so that potential interventions can be attempted.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"13 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144594024","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":"Diversified Segmental Defocus Optimization Lenses With and Without Atropine for Myopia Prevention: A Randomized Clinical Trial.","authors":"Yuchang Lu,Xue Yang,Jingwei Zhou,Sitong Chen,Xuewei Li,Yuanqi Deng,Yixuan Zhang,Yan Li,Kai Wang","doi":"10.1001/jamaophthalmol.2025.2072","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2072","url":null,"abstract":"ImportanceWith growing myopia prevalence worldwide, effective strategies to prevent early-onset myopia are needed.ObjectiveTo evaluate the efficacy of diversified segmental defocus optimization (DSDO) spectacle lenses with or without 0.01% atropine for myopia prevention.Design, Setting, and ParticipantsThis was 1-year randomized placebo-controlled double-masked clinical trial conducted in the Department of Ophthalmology at Peking University People's Hospital from November 2023 to December 2024. Children aged 5 to 12 years with spherical equivalent refraction (SER) of 0.00 to 1.00 diopters (D) after cycloplegia were included, excluding those with ocular diseases, systemic diseases, or previous use of optical or pharmaceutical myopia control methods.InterventionsParticipants were randomly assigned in a 1:1:1 ratio to receive DSDO spectacles with placebo eye drops (DSDO group), DSDO spectacles with 0.01% atropine eye drops (DSDOA group), or single-vision spectacles with placebo eye drops (control group).Main Outcomes and MeasuresThe primary outcomes were the cumulative incidence rate of myopia (defined as SER ≤-0.50 D) and the percentage of participants with fast myopic shift (defined as a spherical equivalent myopic shift ≥0.50 D) over 1 year. Secondary outcomes included changes in SER, axial length, and subfoveal choroidal thickness.ResultsOf the 450 children initially randomized (DSDO group: mean [SD] age, 7.05 [0.12] years; 77 [51.3%] male; DSDOA group: mean [SD] age, 7.02 [0.14] years; 73 [48.7%] male; control group: mean [SD] age, 7.01 [0.11] years; 78 [52.0%] male), 370 (82.2%) completed the study, including 121 in the DSDO group, 125 in the DSDOA group, and 124 in the control group. The 1-year cumulative incidence rates of myopia in the DSDO, DSDOA, and control groups were 5.8% (7/121), 4.8% (6/125), and 15.3% (19/124), respectively, and the percentages of participants with fast myopic shift after 1 year were 15.7% (19/121), 9.6% (12/125), and 42.7% (53/124). Both DSDO and DSDOA groups showed significantly lower 1-year cumulative myopia incidence (DSDO: difference, 9.5%; 95% CI, 1.9-17.5; P = .02; DSDOA: difference, 10.5%; 95% CI, 3.3-18.4; P = .006) and the percentage of patients with fast myopic shift (DSDO: difference, 27.0%; 95% CI, 16.1-37.3; P < .001; DSDOA: difference, 33.1%; 95% CI, 23.1-42.8; P < .001) vs control. No significant differences were observed between DSDO and DSDOA groups.Conclusions and RelevanceThese data suggest that daily use of DSDO spectacles delays the onset of myopia among children without myopia, supporting DSDO spectacles without atropine as an alternative preventive method for children without myopia if supported with longer follow-up and replication by others.Trial RegistrationChinese Clinical Trial Registry: ChiCTR2300077307.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"43 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144594025","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":"Declaration of a Pandemic, 5 Years Later-Lessons Learned.","authors":"Ann-Margret Ervin,Allen O Eghrari,Sheila K West","doi":"10.1001/jamaophthalmol.2025.2180","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2180","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"13 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144594371","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":"Association of COVID-19 Pandemic and Ocular Surgery-Reply.","authors":"Mariam Samuel,Raziyeh Mahmoudzadeh,Jessica D Randolph","doi":"10.1001/jamaophthalmol.2025.2010","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.2010","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"35 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144547778","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":"Preflight Myopia and Visual Acuity Changes in Long-Duration Astronauts.","authors":"Jay C Buckey,Michael E Zegans,Mimi Lan","doi":"10.1001/jamaophthalmol.2025.1935","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.1935","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"26 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144547807","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}