Pub Date : 2025-11-26DOI: 10.1001/jamaophthalmol.2025.4813
Nancy Aychoua,Thales A C de Guimarães,Manav B Ponnekanti,Sajin Sasidharan,Sum-Ping Leung,Folahan Adesola Ibukun,Naomi James,Vanita Berry,Omar A Mahroo,Andrew R Webster,Angelos Kalitzeos,Michel Michaelides
ImportanceExpanding insight into the phenotypic spectrum, social burden of dual sensory impairment, and progression of USH1C-associated retinopathy is essential to inform prognosis and guide emerging therapies.ObjectiveTo characterize some genetic variants, clinical features, natural history, and social outcomes of USH1C-associated retinopathy in a patient cohort.Design, Setting, and ParticipantsThis was a retrospective case series including patients with molecularly confirmed UCH1C-associated retinopathy evaluated at a tertiary referral center from January 1989 to February 2024.ExposureMolecularly confirmed pathogenic variants in USH1C.Main Outcomes and MeasuresMain outcomes included best-corrected visual acuity (BCVA) measured with the Snellen chart, retinal imaging features, genetic variants, and patient-reported social outcomes. Depression was documented by general practitioners using the Patient Health Questionnaire 9. Unemployment was self-reported at last follow-up. Retinitis pigmentosa diagnosis (RP) was diagnosed based on characteristic retinal findings and visual field loss.ResultsA total of 28 patients (mean [SD] age, 27.0 [12.2] years; range, 7-58 years; 15 female [53.6%]) were included in this analysis. Two novel pathogenic USH1C variants were identified; 18 patients were homozygous. Presenting symptoms included nyctalopia (24 of 26 patients [92.3%]) and peripheral vision difficulties (23 of 28 patients [82.1%]). Baseline BCVA (Snellen chart) in the better-seeing eye (n = 25) was 0.22 logMAR (20/32). Among 15 patients with follow-up of 5 years or more, baseline BCVA was 0.30 logMAR (20/40), declining to 0.59 logMAR (20/80). In Early Treatment Diabetic Retinopathy Study (ETDRS) equivalents (n = 15), decline averaged 0.53 letters per year (median, 0; range, 0-2). Four of 24 patients (16.7%) met World Health Organization criteria for severe sight impairment (20/200 or worse in the better-seeing eye). Depression was reported by 5 of 13 patients (38.5%) and unemployment by 7 of 23 patients (30.4%). Optical coherence tomography revealed cystoid macular edema in 5 of 21 patients at baseline, persisting in 2 patients at follow-up. Mean (SD) central subfield thickness was 260.6 (53.6) µm at baseline (n = 18) and 259.4 (44.5) µm at follow-up (n = 15). Patients with missense variants c.308G>A (p.Arg103His) and c.440A>G (p.His147Arg) showed retinitis pigmentosa sparing the superior retina.Conclusions and RelevanceResults of this case series study suggest that USH1C-associated retinopathy was characterized by slow decline of visual acuity and modest ellipsoid zone loss over decades. Depression and unemployment were also observed, with implications for prognosis and counseling. Early onset and slow progression highlight its potential as a target for emerging therapies.
{"title":"Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.","authors":"Nancy Aychoua,Thales A C de Guimarães,Manav B Ponnekanti,Sajin Sasidharan,Sum-Ping Leung,Folahan Adesola Ibukun,Naomi James,Vanita Berry,Omar A Mahroo,Andrew R Webster,Angelos Kalitzeos,Michel Michaelides","doi":"10.1001/jamaophthalmol.2025.4813","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4813","url":null,"abstract":"ImportanceExpanding insight into the phenotypic spectrum, social burden of dual sensory impairment, and progression of USH1C-associated retinopathy is essential to inform prognosis and guide emerging therapies.ObjectiveTo characterize some genetic variants, clinical features, natural history, and social outcomes of USH1C-associated retinopathy in a patient cohort.Design, Setting, and ParticipantsThis was a retrospective case series including patients with molecularly confirmed UCH1C-associated retinopathy evaluated at a tertiary referral center from January 1989 to February 2024.ExposureMolecularly confirmed pathogenic variants in USH1C.Main Outcomes and MeasuresMain outcomes included best-corrected visual acuity (BCVA) measured with the Snellen chart, retinal imaging features, genetic variants, and patient-reported social outcomes. Depression was documented by general practitioners using the Patient Health Questionnaire 9. Unemployment was self-reported at last follow-up. Retinitis pigmentosa diagnosis (RP) was diagnosed based on characteristic retinal findings and visual field loss.ResultsA total of 28 patients (mean [SD] age, 27.0 [12.2] years; range, 7-58 years; 15 female [53.6%]) were included in this analysis. Two novel pathogenic USH1C variants were identified; 18 patients were homozygous. Presenting symptoms included nyctalopia (24 of 26 patients [92.3%]) and peripheral vision difficulties (23 of 28 patients [82.1%]). Baseline BCVA (Snellen chart) in the better-seeing eye (n = 25) was 0.22 logMAR (20/32). Among 15 patients with follow-up of 5 years or more, baseline BCVA was 0.30 logMAR (20/40), declining to 0.59 logMAR (20/80). In Early Treatment Diabetic Retinopathy Study (ETDRS) equivalents (n = 15), decline averaged 0.53 letters per year (median, 0; range, 0-2). Four of 24 patients (16.7%) met World Health Organization criteria for severe sight impairment (20/200 or worse in the better-seeing eye). Depression was reported by 5 of 13 patients (38.5%) and unemployment by 7 of 23 patients (30.4%). Optical coherence tomography revealed cystoid macular edema in 5 of 21 patients at baseline, persisting in 2 patients at follow-up. Mean (SD) central subfield thickness was 260.6 (53.6) µm at baseline (n = 18) and 259.4 (44.5) µm at follow-up (n = 15). Patients with missense variants c.308G>A (p.Arg103His) and c.440A>G (p.His147Arg) showed retinitis pigmentosa sparing the superior retina.Conclusions and RelevanceResults of this case series study suggest that USH1C-associated retinopathy was characterized by slow decline of visual acuity and modest ellipsoid zone loss over decades. Depression and unemployment were also observed, with implications for prognosis and counseling. Early onset and slow progression highlight its potential as a target for emerging therapies.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"117 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145600023","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}
Pub Date : 2025-11-26DOI: 10.1001/jamaophthalmol.2025.4807
Charles C Lin,Elaine Tran,Winston D Chamberlain,Xiangxue Xiao,Tom Lietman,Jennifer Rose-Nussbaumer
{"title":"Contrast Sensitivity in Ultra-Thin DSAEK vs DMEK.","authors":"Charles C Lin,Elaine Tran,Winston D Chamberlain,Xiangxue Xiao,Tom Lietman,Jennifer Rose-Nussbaumer","doi":"10.1001/jamaophthalmol.2025.4807","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4807","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"117 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145600012","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}
Pub Date : 2025-11-26DOI: 10.1001/jamaophthalmol.2025.4669
R Christopher Bowen,Paul J Bryar,Pedram Gerami
ImportanceThere are limited effective treatment options for diffuse conjunctival melanoma in situ (MIS), diffuse conjunctival intraepithelial neoplasia, and squamous cell carcinoma. There is a need for a more effective treatment with less ocular adverse effects than mitomycin C for MIS and 5-fluorouracil for ocular surface squamous neoplasia (OSSN).ObjectiveTo evaluate the outcomes of compounded imiquimod 5% in ophthalmic petrolatum-based ointment for diffuse conjunctival MIS or OSSN.Design, Setting, and ParticipantsThis was an interventional case series study at a tertiary referral center conducted from June 2024 to March 2025. Patients with a histological diagnosis of either conjunctival intraepithelial neoplasia (CIN), conjunctival squamous cell carcinoma, conjunctival MIS, or conjunctival melanoma with adjacent clinical primary acquired melanosis (PAM) were included in the study.ExposuresCompounded imiquimod 5% ointment applied to the conjunctival surface 5 days per week for 12 weeks at a minimum (range, 12-15 weeks) along with a topical antibiotic.Main Outcomes and MeasuresHistological resolution of MIS or OSSN.ResultsThis case series included 5 patients (mean [SD] age, 77.4 [6] years; 4 female [80%]). At 12 weeks of treatment, there was complete clinical and histological response of CIN with moderate dysplasia, partial histological response (downgrade from squamous cell carcinoma to CIN with moderate dysplasia), and no histological recurrence of positive margins of squamous cell carcinoma excision. At 12 weeks of treatment, there was partial clinical response of diffuse MIS with mild persistence of epithelial pigmentation at the corneal limbus at the 7-o'clock position; however, there was complete histological response in the areas of initial map biopsy. At 15 weeks of treatment, there was complete clinical and histological response of PAM. Of the 5 patients, all experienced ophthalmic adverse events only affecting the ocular surface and eyelids. All ocular surface adverse events resolved within 1 to 2 weeks of drug holiday or completing treatment.Conclusions and RelevanceStudy results suggest that, although definitive safety and efficacy cannot be determined across only 5 cases, compounded imiquimod 5% ointment may be a safe and effective approach to manage diffuse conjunctival MIS or OSSN. Longer-term follow-up with larger number of cases is warranted.
{"title":"Imiquimod Treatment for Conjunctival Melanoma In Situ or Ocular Surface Squamous Neoplasia.","authors":"R Christopher Bowen,Paul J Bryar,Pedram Gerami","doi":"10.1001/jamaophthalmol.2025.4669","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4669","url":null,"abstract":"ImportanceThere are limited effective treatment options for diffuse conjunctival melanoma in situ (MIS), diffuse conjunctival intraepithelial neoplasia, and squamous cell carcinoma. There is a need for a more effective treatment with less ocular adverse effects than mitomycin C for MIS and 5-fluorouracil for ocular surface squamous neoplasia (OSSN).ObjectiveTo evaluate the outcomes of compounded imiquimod 5% in ophthalmic petrolatum-based ointment for diffuse conjunctival MIS or OSSN.Design, Setting, and ParticipantsThis was an interventional case series study at a tertiary referral center conducted from June 2024 to March 2025. Patients with a histological diagnosis of either conjunctival intraepithelial neoplasia (CIN), conjunctival squamous cell carcinoma, conjunctival MIS, or conjunctival melanoma with adjacent clinical primary acquired melanosis (PAM) were included in the study.ExposuresCompounded imiquimod 5% ointment applied to the conjunctival surface 5 days per week for 12 weeks at a minimum (range, 12-15 weeks) along with a topical antibiotic.Main Outcomes and MeasuresHistological resolution of MIS or OSSN.ResultsThis case series included 5 patients (mean [SD] age, 77.4 [6] years; 4 female [80%]). At 12 weeks of treatment, there was complete clinical and histological response of CIN with moderate dysplasia, partial histological response (downgrade from squamous cell carcinoma to CIN with moderate dysplasia), and no histological recurrence of positive margins of squamous cell carcinoma excision. At 12 weeks of treatment, there was partial clinical response of diffuse MIS with mild persistence of epithelial pigmentation at the corneal limbus at the 7-o'clock position; however, there was complete histological response in the areas of initial map biopsy. At 15 weeks of treatment, there was complete clinical and histological response of PAM. Of the 5 patients, all experienced ophthalmic adverse events only affecting the ocular surface and eyelids. All ocular surface adverse events resolved within 1 to 2 weeks of drug holiday or completing treatment.Conclusions and RelevanceStudy results suggest that, although definitive safety and efficacy cannot be determined across only 5 cases, compounded imiquimod 5% ointment may be a safe and effective approach to manage diffuse conjunctival MIS or OSSN. Longer-term follow-up with larger number of cases is warranted.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"20 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145600015","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}
Pub Date : 2025-11-26DOI: 10.1001/jamaophthalmol.2025.4806
Carol L Shields,Sara E Lally
{"title":"Imiquimod for Skin Tumors and Now for Conjunctival Tumors?","authors":"Carol L Shields,Sara E Lally","doi":"10.1001/jamaophthalmol.2025.4806","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4806","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"3 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145600013","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.4629
Grace V Heringer,David R Vinson,Catherine J Choi
{"title":"Pulsatile Ptosis in a Young Male Since Childhood.","authors":"Grace V Heringer,David R Vinson,Catherine J Choi","doi":"10.1001/jamaophthalmol.2025.4629","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4629","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"17 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558982","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.4635
Katrina J. Carter, Connor R. Ferguson, Cambria S. O’Grady, Matthew J. Poczatek, Xi Chen, Millennia Young, Alex S. Huang, Steven S. Laurie, Brandon R. Macias
Importance There are limited means to predict which crewmembers are at risk for developing optic disc edema (ODE) during spaceflight. Identifying crewmembers who have a low probability of developing ODE will allow for reduced monitoring and countermeasure resources, thereby enabling alternate mission activities. Objective To determine if magnitude of ODE early in flight is associated with magnitude of ODE later in flight. Design, Setting, and Participants This cohort study involved crewmembers on board the International Space Station. Participants were astronauts who had optical coherence tomography (OCT) imaging before, during, after their spaceflight mission. Preflight and in-flight total retinal thickness (TRT) was quantified within the annular region from Bruch membrane opening to 250 μm using OCT. The change (Δ) in TRT is an objective approach to quantifying ODE. Exposure Spaceflight missions lasting approximately 6 months long. Main Outcomes and Measures Preflight to in-flight ΔTRT. Data were analyzed using linear and log-binomial mixed effects models to determine (1) if ΔTRT on flight day (FD) 30 was associated with ΔTRT on FD150 and (2) the probability a crewmember with ΔTRT less than 20 μm on FD30 would exhibit ΔTRT less than 55 μm on FD150 or a crewmember with ΔTRT of 20 of 55 μm on FD30 would develop ΔTRT greater than 55 μm on FD150. Results Data from 43 ISS crewmembers (mean [SD] age, 47 [7] years; 35 males [81%] and 8 females [19%]) with a mean (SD) flight duration of 198 (55) days were included. There was an association between FD30 ΔTRT and FD150 ΔTRT (repeated-measure correlation coefficient = 0.89; 95% CI, 0.80-0.94; P < .001). Eyes with ΔTRT less than 20 on FD30 had 2% probability (95% CI, 1%-15%) of ΔTRT of 55 μm or greater on FD150. Receiver operating curve analysis determined an optimal threshold ΔTRT of greater than 29 μm on FD30 to distinguish eyes at risk of ΔTRT of 55 μm or greater on FD150. Eyes with ΔTRT of 20 to 55 μm or 29 to 55 μm on FD30 had a 34% (95% CI, 19%-60%) or 58% (95% CI, 37%-90%) probability, respectively, of ΔTRT of 55 μm or greater on FD150. Conclusions and Relevance Findings suggest crewmembers who did not develop ODE on FD30 were unlikely to develop clinically concerning ODE on FD150. The data suggest that OCT imaging during spaceflight missions provides an opportunity to predict the magnitude of ODE that may develop during a longer-lasting mission.
{"title":"Prediction of Optic Disc Edema Progression During Spaceflight","authors":"Katrina J. Carter, Connor R. Ferguson, Cambria S. O’Grady, Matthew J. Poczatek, Xi Chen, Millennia Young, Alex S. Huang, Steven S. Laurie, Brandon R. Macias","doi":"10.1001/jamaophthalmol.2025.4635","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4635","url":null,"abstract":"Importance There are limited means to predict which crewmembers are at risk for developing optic disc edema (ODE) during spaceflight. Identifying crewmembers who have a low probability of developing ODE will allow for reduced monitoring and countermeasure resources, thereby enabling alternate mission activities. Objective To determine if magnitude of ODE early in flight is associated with magnitude of ODE later in flight. Design, Setting, and Participants This cohort study involved crewmembers on board the International Space Station. Participants were astronauts who had optical coherence tomography (OCT) imaging before, during, after their spaceflight mission. Preflight and in-flight total retinal thickness (TRT) was quantified within the annular region from Bruch membrane opening to 250 μm using OCT. The change (Δ) in TRT is an objective approach to quantifying ODE. Exposure Spaceflight missions lasting approximately 6 months long. Main Outcomes and Measures Preflight to in-flight ΔTRT. Data were analyzed using linear and log-binomial mixed effects models to determine (1) if ΔTRT on flight day (FD) 30 was associated with ΔTRT on FD150 and (2) the probability a crewmember with ΔTRT less than 20 μm on FD30 would exhibit ΔTRT less than 55 μm on FD150 or a crewmember with ΔTRT of 20 of 55 μm on FD30 would develop ΔTRT greater than 55 μm on FD150. Results Data from 43 ISS crewmembers (mean [SD] age, 47 [7] years; 35 males [81%] and 8 females [19%]) with a mean (SD) flight duration of 198 (55) days were included. There was an association between FD30 ΔTRT and FD150 ΔTRT (repeated-measure correlation coefficient = 0.89; 95% CI, 0.80-0.94; <jats:italic toggle=\"yes\">P</jats:italic> &amp;lt; .001). Eyes with ΔTRT less than 20 on FD30 had 2% probability (95% CI, 1%-15%) of ΔTRT of 55 μm or greater on FD150. Receiver operating curve analysis determined an optimal threshold ΔTRT of greater than 29 μm on FD30 to distinguish eyes at risk of ΔTRT of 55 μm or greater on FD150. Eyes with ΔTRT of 20 to 55 μm or 29 to 55 μm on FD30 had a 34% (95% CI, 19%-60%) or 58% (95% CI, 37%-90%) probability, respectively, of ΔTRT of 55 μm or greater on FD150. Conclusions and Relevance Findings suggest crewmembers who did not develop ODE on FD30 were unlikely to develop clinically concerning ODE on FD150. The data suggest that OCT imaging during spaceflight missions provides an opportunity to predict the magnitude of ODE that may develop during a longer-lasting mission.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145554771","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.4671
Rebecca R. Mastey, Megan Otto, Thomas B. Connor, Joseph Carroll
This case report describes the discovery of Stargardt disease in an individual 4 years after having been included as a healthy control in an adaptive optics imaging study.
本病例报告描述了在自适应光学成像研究中作为健康对照纳入4年后发现的个体Stargardt病。
{"title":"Incidental Finding of Stargardt Disease in a Healthy Control","authors":"Rebecca R. Mastey, Megan Otto, Thomas B. Connor, Joseph Carroll","doi":"10.1001/jamaophthalmol.2025.4671","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4671","url":null,"abstract":"This case report describes the discovery of Stargardt disease in an individual 4 years after having been included as a healthy control in an adaptive optics imaging study.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"185 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145554777","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.3648
Roger P. Harrie
This case report discusses a diagnosis of exudative retinal detachment secondary to melanoma immunotherapy with the checkpoint inhibitors ipilimaud and nivolumab.
本病例报告讨论了继发于黑色素瘤免疫治疗与检查点抑制剂伊匹莫和纳沃单抗的渗出性视网膜脱离的诊断。
{"title":"Large Bilateral Exudative Retinal Detachments Related to Checkpoint Inhibitors","authors":"Roger P. Harrie","doi":"10.1001/jamaophthalmol.2025.3648","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.3648","url":null,"abstract":"This case report discusses a diagnosis of exudative retinal detachment secondary to melanoma immunotherapy with the checkpoint inhibitors ipilimaud and nivolumab.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"6 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145554797","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.4623
Hiromi Yee, Chiew Meng Johnny Wong, Preeti Gupta, Sahil Thakur, Eva Fenwick, Ecosse L. Lamoureux, Ryan E. K. Man
Importance While population-based surveys have identified a high prevalence of undiagnosed eye diseases among Asian adults, these studies were conducted more than a decade ago, and there is a paucity of contemporary data. Objectives To determine the contemporary prevalence of undiagnosed age-related macular degeneration (AMD), diabetic retinopathy (DR), cataracts, and glaucoma and their shared risk determinants and to evaluate these conditions’ patient-centered and economic burden in a large multiethnic cohort of older Asian adults. Design, Setting, and Participants This cross-sectional cohort study was conducted among individuals from the Population Health and Eye Disease Profile in Elderly Singaporeans study (PIONEER-1, conducted from December 2017 to November 2022), a population-based cohort of community-dwelling individuals of Chinese, Malay, and Indian ethnicity aged 60 years or older living in Singapore. Data analysis was performed from April 2024 to December 2024. Exposures The 4 eye diseases were diagnosed clinically by a study ophthalmologist; participants were considered undiagnosed if no prior physician diagnosis or related interventions were reported. Main Outcomes and Measures One primary outcome, visual impairment (VI), was assessed clinically using the logMAR chart at 4 m by certified optometrists, while key patient-centered and economic outcomes were assessed using validated questionnaires. Results This study was conducted among 1878 individuals from the PIONEER-1 study, among whom mean (SD) age was 72.7 (8.3) years and 1013 participants (53.9%) were female. A total of 742 participants (weighted prevalence: 35.8%) had at least 1 type of undiagnosed eye disease, with 650 participants (87.6%), 87 participants (11.7%), and 5 participants (0.7%) having 1, 2, and 3 conditions, respectively. Among individuals with AMD, DR, cataracts, or glaucoma, the weighted prevalences of undiagnosed disease were 89.8%, 89.8%, 40.8%, and 48.1%, respectively. Younger age (odds ratio [OR], 1.08 per year decrease; 95% CI, 1.06-1.10; <jats:italic toggle="yes">P</jats:italic> &lt; .001), wearing multifocal glasses (OR, 1.75; 95% CI, 1.19-2.59; <jats:italic toggle="yes">P</jats:italic> = .005), and Malay (OR, 1.71; 95% CI, 1.21-2.43; <jats:italic toggle="yes">P</jats:italic> = .003) and Indian (OR, 1.43; 95% CI, 1.00-2.04; <jats:italic toggle="yes">P</jats:italic> = .05) ethnicities compared with Chinese individuals were associated with greater odds of having undiagnosed eye disease. Individuals with undiagnosed eye diseases reported −1.97% to −4.57% lower scores in health- and vision-related quality of life, as well as a greater likelihood of having VI (OR, 2.46; 95% CI, 1.68-3.61; <jats:italic toggle="yes">P</jats:italic> &lt; .001). Additionally, undiagnosed individuals incurred 1.73-fold higher health care expenditures compared with those who were diagnosed (diagnosed: reference; undiagnosed: OR, 1.73; 95% CI, 1.06-2.84; <jats:italic tog
虽然以人群为基础的调查已经确定了亚洲成年人中未确诊眼病的高发率，但这些研究是在十多年前进行的，并且缺乏当代数据。目的确定当代未确诊的年龄相关性黄斑变性（AMD）、糖尿病视网膜病变（DR）、白内障和青光眼的患病率及其共同的风险决定因素，并评估这些疾病在亚洲老年人群中以患者为中心的状况和经济负担。设计、环境和参与者本横断面队列研究是在新加坡老年人人口健康和眼病概况研究（PIONEER-1，于2017年12月至2022年11月进行）的个体中进行的，该研究是一项基于人群的队列研究，由居住在新加坡的60岁或以上的华人、马来人和印度人组成。数据分析时间为2024年4月至2024年12月。4种眼病由一名研究眼科医师临床诊断；如果没有先前的医生诊断或相关干预措施报告，参与者被认为是未确诊的。其中一个主要结局是视力损害（VI），由认证验光师在4米处使用logMAR图进行临床评估，而以患者为中心的关键结局和经济结局通过有效的问卷进行评估。结果本研究纳入了PIONEER-1研究的1878名个体，其中平均（SD）年龄为72.7（8.3）岁，女性1013名（53.9%）。共有742名参与者（加权患病率：35.8%）至少有一种未确诊的眼病，其中650名参与者（87.6%）、87名参与者（11.7%）和5名参与者（0.7%）分别有1、2和3种眼病。在AMD、DR、白内障或青光眼患者中，未确诊疾病的加权患病率分别为89.8%、89.8%、40.8%和48.1%。年龄更小(优势比[OR]， 1.08 /年下降；95% CI, 1.06-1.10; P <；001)、佩戴多焦点眼镜（OR, 1.75; 95% CI, 1.19-2.59; P = 0.005）、马来（OR, 1.71; 95% CI, 1.21-2.43; P = 0.003）和印度（OR, 1.43; 95% CI, 1.00-2.04; P = 0.05）与华人相比，患未确诊眼病的几率更高。患有未确诊眼病的个体在健康和视力相关生活质量方面的得分低- 1.97%至- 4.57%，患VI的可能性更大（OR, 2.46; 95% CI, 1.68-3.61; P < .001）。此外，未确诊个体的医疗保健支出比确诊个体高1.73倍（确诊：参考；未确诊：OR， 1.73; 95% CI, 1.06-2.84; P = 0.03）。在这项横断面队列研究中，未确诊的年龄相关眼病的发生率相对较高，这些疾病与较差的以患者为中心的结果和较高的医疗保健支出相关。这些结果支持使用社区眼科筛查服务和健康意识运动，针对60岁以上年龄范围低端的个人以及马来人和印度人，以减轻未确诊眼病对这些人的有害影响。
{"title":"Prevalence, Risk Determinants, and Burden of Undiagnosed Age-Related Eye Diseases Among Older Asian Adults","authors":"Hiromi Yee, Chiew Meng Johnny Wong, Preeti Gupta, Sahil Thakur, Eva Fenwick, Ecosse L. Lamoureux, Ryan E. K. Man","doi":"10.1001/jamaophthalmol.2025.4623","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.4623","url":null,"abstract":"Importance While population-based surveys have identified a high prevalence of undiagnosed eye diseases among Asian adults, these studies were conducted more than a decade ago, and there is a paucity of contemporary data. Objectives To determine the contemporary prevalence of undiagnosed age-related macular degeneration (AMD), diabetic retinopathy (DR), cataracts, and glaucoma and their shared risk determinants and to evaluate these conditions’ patient-centered and economic burden in a large multiethnic cohort of older Asian adults. Design, Setting, and Participants This cross-sectional cohort study was conducted among individuals from the Population Health and Eye Disease Profile in Elderly Singaporeans study (PIONEER-1, conducted from December 2017 to November 2022), a population-based cohort of community-dwelling individuals of Chinese, Malay, and Indian ethnicity aged 60 years or older living in Singapore. Data analysis was performed from April 2024 to December 2024. Exposures The 4 eye diseases were diagnosed clinically by a study ophthalmologist; participants were considered undiagnosed if no prior physician diagnosis or related interventions were reported. Main Outcomes and Measures One primary outcome, visual impairment (VI), was assessed clinically using the logMAR chart at 4 m by certified optometrists, while key patient-centered and economic outcomes were assessed using validated questionnaires. Results This study was conducted among 1878 individuals from the PIONEER-1 study, among whom mean (SD) age was 72.7 (8.3) years and 1013 participants (53.9%) were female. A total of 742 participants (weighted prevalence: 35.8%) had at least 1 type of undiagnosed eye disease, with 650 participants (87.6%), 87 participants (11.7%), and 5 participants (0.7%) having 1, 2, and 3 conditions, respectively. Among individuals with AMD, DR, cataracts, or glaucoma, the weighted prevalences of undiagnosed disease were 89.8%, 89.8%, 40.8%, and 48.1%, respectively. Younger age (odds ratio [OR], 1.08 per year decrease; 95% CI, 1.06-1.10; <jats:italic toggle=\"yes\">P</jats:italic> &amp;lt; .001), wearing multifocal glasses (OR, 1.75; 95% CI, 1.19-2.59; <jats:italic toggle=\"yes\">P</jats:italic> = .005), and Malay (OR, 1.71; 95% CI, 1.21-2.43; <jats:italic toggle=\"yes\">P</jats:italic> = .003) and Indian (OR, 1.43; 95% CI, 1.00-2.04; <jats:italic toggle=\"yes\">P</jats:italic> = .05) ethnicities compared with Chinese individuals were associated with greater odds of having undiagnosed eye disease. Individuals with undiagnosed eye diseases reported −1.97% to −4.57% lower scores in health- and vision-related quality of life, as well as a greater likelihood of having VI (OR, 2.46; 95% CI, 1.68-3.61; <jats:italic toggle=\"yes\">P</jats:italic> &amp;lt; .001). Additionally, undiagnosed individuals incurred 1.73-fold higher health care expenditures compared with those who were diagnosed (diagnosed: reference; undiagnosed: OR, 1.73; 95% CI, 1.06-2.84; <jats:italic tog","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"20 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145554776","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}
Pub Date : 2025-11-20DOI: 10.1001/jamaophthalmol.2025.3605
Nan Zhou, Lihong Yang, Wenbin Wei
This case report provides a description of bullous retinoschisis using swept-source optical coherence tomography (OCT) in a 13-year-old boy diagnosed with X-linked retinoschisis.
{"title":"OCT Angiography in X-Linked Retinoschisis","authors":"Nan Zhou, Lihong Yang, Wenbin Wei","doi":"10.1001/jamaophthalmol.2025.3605","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.3605","url":null,"abstract":"This case report provides a description of bullous retinoschisis using swept-source optical coherence tomography (OCT) in a 13-year-old boy diagnosed with X-linked retinoschisis.","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"82 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145554825","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：