JAMA ophthalmology最新文献

{"title":"Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.","authors":"Patrick Yu-Wai-Man, Nancy J Newman, Valérie Biousse, Valerio Carelli, Mark L Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Robert C Sergott, Rabih Hage, Simona Degli Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Magali Taiel, José-Alain Sahel","doi":"10.1001/jamaophthalmol.2024.5375","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5375","url":null,"abstract":"<p><strong>Importance: </strong>Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON).</p><p><strong>Objective: </strong>To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration.</p><p><strong>Design, setting, and participants: </strong>The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), conducted from 2018 to 2022, is the 5-year follow-up study of the 2 phase 3 clinical studies RESCUE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss Up to 6 Months From Onset in LHON Due to the MT-ND4 Mutation) and REVERSE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the MT-ND4 Mutation). At the end of each study, ie, 2 years after gene therapy administration, patients were offered enrollment in the RESTORE trial, a multinational, multicenter, prospective study, for an additional 3 years of follow-up. Patients with LHON due to the MT-ND4 gene variant received lenadogene nolparvovec in 1 eye and a sham injection in the other eye.</p><p><strong>Intervention: </strong>Lenadogene nolparvovec was administered as a single intravitreal injection in the RESCUE/REVERSE studies.</p><p><strong>Main outcomes and measures: </strong>Measures included best-corrected visual acuity (BCVA), quality of life using the National Eye Institute visual functioning questionnaire 25 (NEI VFQ-25), and adverse events.</p><p><strong>Results: </strong>Among the 76 patients who received gene therapy in the RESCUE (n = 39) and REVERSE (n = 37) studies, 72 (94.7%) completed these studies; 62 patients (81.6%) participated in the RESTORE trial, and 55 patients (72.4%) completed the 5-year follow-up. Participants were mostly male (49 [79.0%]) with a mean (SD) age of 35.9 (15.3) years at treatment. At baseline, the mean (SD) BCVA was 1.5 (0.5) logMAR (20/600 Snellen) in eyes to be treated with lenadogene nolparvovec and 1.4 (0.5) logMAR (20/500) in sham eyes. At the end of the RESCUE/REVERSE trials, ie, 2 years after treatment, eyes treated with lenadogene nolparvovec and eyes treated with sham reached a mean BCVA value of 1.4 (0.6) logMAR (20/500). The mean (SD) change from baseline to year 2 was -0.05 (0.6) logMAR (+1 line) and 0.01 (0.6) logMAR (-0 line) in gene therapy-treated and sham eyes, respectively (difference, -0.03; 95% CI, -0.16 to 0.09; P = .60). Five years after treatment, the bilateral improvement from nadir was similar to that observed at 2 years, with a mean (SD) change in BCVA of -0.4 (0.5) logMAR (more than +4 lines) for eyes treated with lenadogene nolparvovec and -0.4 (0.4) logMAR (+4 lines) for eyes treated with sham (difference, -0.05; 95% CI, -0.15 to 0.04; P = .27). An improvement of at least -0.3 logMAR (+3 lines) from the nadir in at least 1 eye was observed in 66.1% of participants (41 of 62). Between","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854115","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":"Bilateral Retinal Nerve Fiber Layer Thickening in a Middle-Aged Woman.","authors":"Ivy Zhu, Amani A Fawzi","doi":"10.1001/jamaophthalmol.2024.5457","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5457","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854089","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":"Single-Eye Gene Therapy for Leber Hereditary Optic Neuropathy.","authors":"Hendrik P N Scholl, Bence György","doi":"10.1001/jamaophthalmol.2024.5618","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5618","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854121","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":"Quantifying Patient Preferences and Expectations About Diabetic Retinopathy Monitoring.","authors":"Juan Marcos Gonzalez Sepulveda, Jui-Chen Yang, Alicja Mastylak, Elaine M Wells-Gray, Landon Grace, Stephen Fransen","doi":"10.1001/jamaophthalmol.2024.5365","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5365","url":null,"abstract":"<p><strong>Importance: </strong>Diabetic retinopathy (DR) is the leading cause of blindness among adults in the US. The US Centers for Disease Control and Prevention recommends annual DR monitoring for all individuals with diabetes, yet monitoring rates remain below 70%.</p><p><strong>Objective: </strong>To evaluate how patient preferences and expectations about DR monitoring are associated with expected monitoring adherence behaviors.</p><p><strong>Design, setting, and participants: </strong>In this survey study, a web-enabled survey instrument was developed and implemented with a discrete-choice experiment to characterize patient preferences for outcomes of DR monitoring and graded-pair questions to quantify patients' expectations about the impact of DR monitoring on blindness risk. The survey was conducted through ResearchMatch, a US National Institutes of Health-developed online platform, among adults with self-reported, physician-diagnosed diabetes. Recruitment occurred between September 15, 2023, and October, 17, 2023, and data analysis occurred between October 2023 and December 2023. Results from the 2 tasks were combined to derive patients' expected monitoring behavior following a recently proposed treatment adherence framework. The survey instrument was pretested in cognitive interviews and validated for the purposes of this study.</p><p><strong>Exposure: </strong>Survey-based discrete-choice experiment and graded-pair questions.</p><p><strong>Main outcomes and measures: </strong>Participants' relative preferences for DR-related blindness risk reductions, monitoring time, and out-of-pocket monitoring costs were quantified, as well as the degree to which participants expected adherence to monitoring to affect the risk of blindness. By combining how much participants valued specific reductions in blindness risk (relative to monitoring costs) and their expected risk reduction through monitoring, the rate at which patients would maximize the benefit of monitoring appointments was assessed.</p><p><strong>Results: </strong>The survey was completed satisfactorily by 304 respondents of 542 individuals invited to participate. Mean (SD) respondent age was 40.5 (11.2) years, and 169 respondents (56.1%) were female. Reductions in blindness risk were valuable to participants. Participants required a 3.87 (95% CI, 1.91-5.88) percentage-point reduction in 5-year blindness risk to be fully adherent to an annual 53-minute monitoring visit with a $26 co-payment, but respondents expected DR monitoring to reduce the 5-year blindness risk by 0.71 (95% CI, 0.21-1.28) percentage points.</p><p><strong>Conclusions and relevance: </strong>In this online survey study among adults with diabetes, measurement of patient preferences and expectations about DR monitoring with properly validated instruments offered an opportunity to assess patient health behaviors. The association between preferences and monitoring expectations was generally consistent with monitoring no","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854120","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":"Novel In-Office Procedure for Retinal Detachment.","authors":"Jacob S Heng, Yannis M Paulus","doi":"10.1001/jamaophthalmol.2024.5491","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5491","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812978","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":"Progressive Eyelid Lesions in a Woman With Essential Thrombocythemia.","authors":"Akshara R Legala, Marissa K Shoji, Don O Kikkawa","doi":"10.1001/jamaophthalmol.2024.5304","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5304","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813022","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":"Risk Factors for Retinopathy in Young Adults With Type 1 Diabetes.","authors":"Shilan Seyed Ahmadi, Johnny Ludvigsson, Henrik Imberg, Thomas Nyström, Marcus Lind","doi":"10.1001/jamaophthalmol.2024.5274","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5274","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813030","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":"In-Office Suprachoroidal Viscopexy for Acute Rhegmatogenous Retinal Detachment.","authors":"Rajeev H Muni, Isabela Martins Melo, Sueellen Demian, Tomas Minelli, Hatim Batawi, John Park, Aurora Pecaku","doi":"10.1001/jamaophthalmol.2024.5202","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5202","url":null,"abstract":"<p><strong>Importance: </strong>In-office suprachoroidal viscopexy (SCVEXY) is a relatively new procedure for rhegmatogenous retinal detachment (RRD), but minimal information is available regarding outcomes and safety.</p><p><strong>Objective: </strong>To report outcomes with in-office SCVEXY for primary acute RRD.</p><p><strong>Design, setting, and participants: </strong>This retrospective case series was conducted at St Michael's Hospital in Toronto, Ontario, Canada from June 2023 to February 2024 among consecutive patients with primary acute RRDs who presented with retinal tears that were reachable with the current in-office SCVEXY technique in the temporal or nasal retina.</p><p><strong>Exposure: </strong>Suprachoroidal injection of 0.6 mL of sodium hyaluronate, 2.3%, at the break location using a 30-gauge needle with a custom-made guard leaving 1 mm of the needle exposed. Laser retinopexy was applied around the break once reattachment was achieved.</p><p><strong>Main outcome and measures: </strong>The primary outcome was primary anatomic reattachment rate with SCVEXY and recovery of function and anatomic integrity.</p><p><strong>Results: </strong>Among 6 patients, 2 patients (33.3%) were female, and mean (SD) patient age was 52.5 (19.7) years. The final follow-up duration for each patient was 510, 420, 360, 360, 330, and 320 days, respectively. Baseline VAs were hand motions, counting fingers, 20/100, 20/100, 20/25, and hand motions for patients 1 through 6, respectively. A dome-shaped suprachoroidal buckle was present in all cases after the procedure. Five of 6 patients (83.3%) achieved anatomic reattachment with no retinal displacement or outer retinal folds, and these patients could resume normal activity immediately after the procedure with no restrictions. The mean (SD) logMAR VA at 3 months was +0.46 (0.34) (Snellen 20/57). The viscoelastic persisted in the suprachoroidal space as confirmed by multimodal imaging for 10, 14, 21, 13, 24, and 14 days, respectively, and the retina remained attached during the entire postoperative follow-up period. One patient's SCVEXY failed due to inadequate viscoelastic at the posterior edge of the retinal break, and this patient underwent a successful pneumatic retinopexy. One patient developed a localized choroidal effusion unrelated to the SCVEXY site following laser retinopexy that resolved in 1 week associated with topical prednisolone, 1%, 4 times daily and cyclopentolate, 1%, twice daily.</p><p><strong>Conclusions and relevance: </strong>In this case series, the outcomes of these 6 cases suggest that SCVEXY may offer durable retinal reattachment in RRD. However, randomized clinical trial data, larger sample sizes, and longer-term follow-up are necessary to assess the risk-benefit profile of SCVEXY compared with the standard of care.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812495","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":"Fovea-Involved Outer Retinal Abnormality Induced by a Novel RET Inhibitor.","authors":"Langxuan Yuan, Shan Gao, Shimin Tan, Qianyan Kang, Jianqin Lei","doi":"10.1001/jamaophthalmol.2024.5236","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5236","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812563","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":"Diabetic Retinopathy-Another Possible Target for SGLT2 Inhibitors?","authors":"Jonathan E Shaw, Alicia J Jenkins","doi":"10.1001/jamaophthalmol.2024.5364","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2024.5364","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785433","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}