JAMA ophthalmology最新文献

{"title":"Web-Based Amblyopia Decision Support Tool.","authors":"Allison I Summers, Stanley W Hatch, Sarah R Hatt, Emily K Wiecek, Michelle R Hribar, Julianne L Robinson, Angela M Chen, Marjean T Kulp, Debora M Lee Chen, Michael X Repka, Jingyun Wang, Tawna L Roberts, David K Wallace, Marilyn Vricella, Steven Chang, Kathleen M Stutz, Wesley T Beaulieu, Raymond T Kraker, Susan A Cotter, Jonathan M Holmes, Katherine K Weise, Stacy L Pineles","doi":"10.1001/jamaophthalmol.2026.1095","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1095","url":null,"abstract":"<p><strong>Importance: </strong>Amblyopia is the leading cause of monocular decreased best-corrected vision in children. Early detection and intervention are key for optimal treatment outcomes; however, limited access to pediatric eye specialists may hinder timely care and affect visual outcomes. Given the shortage of specialty-trained eye care professionals in the US, there is need to support comprehensive eye care professionals who are willing to examine and treat children with amblyopia.</p><p><strong>Objective: </strong>A panel from the Pediatric Eye Disease Investigator Group synthesized relevant literature and incorporated consensus opinion where direct evidence was lacking to create the Amblyopia Navigator Decision-Support Instrument, a free, web-based amblyopia decision support tool for eye care professionals.</p><p><strong>Evidence review: </strong>The decisions related to optimal diagnostic measures, pass/refer criteria, and management recommendations were informed by 147 publications. In areas where direct evidence was lacking, guidance was supplemented with clinical trial protocols or existing professional guidelines. When data were conflicting or unavailable, recommendations were established through committee consensus. A single reviewer independently performed standardized (though not systematic) literature reviews to avoid missing pertinent recent publications.</p><p><strong>Findings: </strong>Presented are the process used, supporting evidence, and recommendations for testing methods, refractive correction, amblyopia treatment options, treatment adjustments, and monitoring schedules.</p><p><strong>Conclusions and relevance: </strong>Because amblyopia is common and typically responds well to treatment, decision support tools that optimize its management could increase access to pediatric eye care by facilitating earlier detection, enabling broader participation of primary eye care professionals, and ultimately improving visual outcomes. Through this work and the development of the forthcoming free, web-based application version, Amblyopia Navigator Decision-Support Instrument, the Pediatric Eye Disease Investigator Group has created decision support tools designed to assist optometrists and ophthalmologists in the care of children aged 3 to 17 years with amblyopia.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837888","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 FOXC1 Duplications With Juvenile Open-Angle Glaucoma.","authors":"Giorgina E Maxwell, Joshua M Schmidt, Antonia Kolovos, Thi T Nguyen, Katherine Zamora-Alejo, Jonathan B Ruddle, Michael Alex Craig, Mark Walland, Anne M V Brooks, Krzysztof Bernatowicz, Carmela B Guevarra, Francis Raymond Castor, Edward Ryan Collantes, Michael C Sibulo, Owen M Siggs, Janey L Wiggs, Jamie E Craig, Emmanuelle Souzeau","doi":"10.1001/jamaophthalmol.2026.1183","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1183","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Importance: &lt;/strong&gt;While FOXC1 single-nucleotide variants and deletions are well-established causes of Axenfeld-Rieger syndrome, few FOXC1 duplications have been reported. This study investigated families with duplications encompassing the FOXC1 gene to refine the associated phenotypic spectrum and contribution to glaucoma.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To investigate the prevalence and phenotype of FOXC1 duplications in 2 large glaucoma registries.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design, setting, and participants: &lt;/strong&gt;This retrospective observational genetic cohort study included participants recruited from the Australian & New Zealand Registry of Advanced Glaucoma (ANZRAG) and the Massachusetts Eye and Ear (MEE) cohort from 2008 through 2025. Participants with glaucoma, and available relatives, underwent genomic testing to identify duplications encompassing FOXC1 using exome sequencing and genotyping arrays (ANZRAG) or whole-genome sequencing (MEE). Data analyses were conducted from 2022 through 2025.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcomes and measures: &lt;/strong&gt;Prevalence of FOXC1 duplications, age at glaucoma onset, and phenotype, including ocular and systemic features.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Twenty individuals from 10 families (50% female and 50% male; 70% self-described as broadly European [Australian/British, British, English/German, English/Polish, European, or Scottish], 25% as Asian [Chinese or Filipino], and 5% as Latin American [Salvadoran]) were identified with FOXC1 duplications. All genetically tested individuals were diagnosed with glaucoma, demonstrating high penetrance. Seventeen individuals were referred with juvenile open-angle glaucoma (JOAG), 1 with primary open-angle glaucoma, 1 with primary congenital glaucoma, and 1 with anterior segment dysgenesis. The diagnosis of 4 individuals from 1 family with ectropion uveae was revised to anterior segment dysgenesis. Systemic features were reported for 2 participants (10.5%), including subtle dental findings and mild facial dysmorphism. Duplications encompassing FOXC1 were among the most common monogenic contributors to JOAG. In the ANZRAG group, they accounted for 13.5% (95% CI, 6.7%-25.3%) of JOAG probands with a genetic diagnosis, second to MYOC (53.8%; 95% CI, 40.5%-66.7%). In the MEE group, FOXC1 duplications accounted for 9.5% (95% CI, 2.7%-28.9%) of JOAG probands with a genetic diagnosis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions and relevance: &lt;/strong&gt;These findings suggest FOXC1 duplications are an underrecognized, highly penetrant, but variably expressive, genetic variation associated with JOAG. Findings for the relatively modest number of individuals in the retrospective study were associated with wide confidence intervals. This limitation is often inherent to studies of JOAG, a rare condition for which individual genetic variants account for only a subset of cases. Despite this, the findings highlight the genetic heterogeneity of JOAG and support the potential importance of consider","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837905","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":"FOXC1 Duplications-New Mutations and Clinical Features in an Old Glaucoma Gene.","authors":"John H Fingert","doi":"10.1001/jamaophthalmol.2026.1304","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1304","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837932","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":"Vitiligolike Leukoderma Associated With Chronic Unilateral Topical Ophthalmic Atropine and Dorzolamide.","authors":"Francesco Bruni, Zaid Alsafi, Ali Abbas","doi":"10.1001/jamaophthalmol.2026.1241","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1241","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837910","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":"Blunt Ocular Trauma in a 6-Year-Old Child.","authors":"Wu Xiang, Zhihao Jiang, Yantao Wei","doi":"10.1001/jamaophthalmol.2026.1193","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1193","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837943","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":"Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma.","authors":"Anaïs Le Ven, Marie-Charlotte Villy, Marine Le Mentec, Alexandre Houy, Catherine Dubois d'Enghien, Alexandre Matet, Denis Malaise, Virginie Bubien, Alain Lortholary, Amal Ait Omar, Dominique Stoppa-Lyonnet, Nathalie Cassoux, Manuel Rodrigues, Lisa Golmard, Marc-Henri Stern, Chrystelle Colas","doi":"10.1001/jamaophthalmol.2026.1071","DOIUrl":"10.1001/jamaophthalmol.2026.1071","url":null,"abstract":"<p><strong>Importance: </strong>MBD4 monoallelic germline pathogenic and likely pathogenic variants have recently been identified as predisposing to uveal melanoma, a rare primary intraocular tumor, with an estimated 9.15-fold increased risk of developing the disease for pathogenic variant carriers.</p><p><strong>Objective: </strong>To assess the risk of developing uveal melanoma for carriers of the MBD4 monoallelic germline pathogenic variant.</p><p><strong>Design, setting, and participants: </strong>In a case series involving 896 individuals, including 319 who were previously evaluated, germline target-sequencing of MBD4 was offered to every new patient with uveal melanoma at Curie Institute from February 2021 to September 2025. Non-Finnish European participants from the Genome Aggregation Database were used as a reference population.</p><p><strong>Exposure: </strong>Diagnosis of uveal melanoma genetic predisposition.</p><p><strong>Main outcomes and measures: </strong>Prevalence of MBD4 variants.</p><p><strong>Results: </strong>A total of 23 of 896 patients were identified as carrying an MBD4 germline pathogenic or likely pathogenic variant, corresponding to a relative risk of 31.44 (95% CI, 18.18-53.00) of developing uveal melanoma compared with the general population (2-sided Fisher exact test, P < .001).</p><p><strong>Conclusions and relevance: </strong>These findings confirm that MBD4 is an important predisposing gene to uveal melanoma in the French population. This reinforces a strategy of broad patient screening given the therapeutic implications and the consequences of genetic counseling.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13133719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771571","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}

{"title":"Nonuniform Association of Genetic Risk Scores for Intraocular Pressure.","authors":"Xi He, Yu Huang, Denis Plotnikov, Louise Terry, Jeremy A Guggenheim","doi":"10.1001/jamaophthalmol.2026.1022","DOIUrl":"10.1001/jamaophthalmol.2026.1022","url":null,"abstract":"<p><strong>Importance: </strong>Elevated intraocular pressure (IOP) is a risk factor for primary open-angle glaucoma, and genetic risk scores hold promise as a tool for screening for ocular hypertension. However, genetic risk scores for IOP have a nonuniform association across the range of IOP, which reduces their accuracy.</p><p><strong>Objective: </strong>To test the hypothesis that nonuniform behavior of genetic risk scores for IOP is associated with a specific type of genetic interaction.</p><p><strong>Design, setting, and participants: </strong>Cross-sectional, post hoc genetic association studies were performed using linear and quantile regression in a sample of UK Biobank participants. Data were analyzed from January to September 2025.</p><p><strong>Exposures: </strong>Ninety-eight genetic variants associated with IOP.</p><p><strong>Main outcomes and measures: </strong>Tests were carried out for 98 genetic variants associated with IOP (P < 5.0 ×10-8) to examine (1) dominant or recessive genetic effects, (2) genotype × genotype interactions, (3) genotype × age interactions, and (4) genotype × sex interactions.</p><p><strong>Results: </strong>A total of 98 235 participants (mean [SD] age, 58.1 [7.9] years; 52 168 female [53.1%]) were included in this analysis. More variants exhibited genotype × age interactions than expected by chance (14 of the 98 variants associated with IOP had at least nominal evidence of an interaction with age; P = 3.76 ×10-4). For 12 of these 14 variants, age increased rather than decreased the magnitude of the IOP vs genotype association. However, integrating age interactions into the genetic risk score construction process did not yield improved accuracy (incremental noninteraction model, R2 = 4.05; 95% CI, 3.82-4.31 and interaction model, R2 = 4.04; 95% CI, 3.80-4.27). There was little support for other types of genetic interaction.</p><p><strong>Conclusions and relevance: </strong>In the current work, findings show minimal evidence that nonadditive allelic effects, genotype × genotype interactions, and genotype × sex interactions contributed to the nonuniform association of genetic variants with IOP across quantiles of IOP. Although a genetic risk score for IOP was more accurate in older vs younger individuals, efforts to account for genotype × age interactions in genetic risk score construction did not improve accuracy. These findings suggest other factors, such as gene-environment interactions, contribute to the nonuniform relationship of genetic variants with IOP.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13133721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771620","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}

{"title":"Intravitreal Interleukin 6 Inhibitors for Uveitic Macular Edema.","authors":"Stephanie M Llop, Swati L Narayan","doi":"10.1001/jamaophthalmol.2026.1114","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.1114","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771627","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":"Different Predictors for Components of Spaceflight-Associated Neuro-Ocular Syndrome.","authors":"Sarah Mirza, Mimi Lan, Bofan Chen, Christopher E Niemczak, Jay C Buckey","doi":"10.1001/jamaophthalmol.2026.1054","DOIUrl":"10.1001/jamaophthalmol.2026.1054","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13133718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771597","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}

{"title":"AS-OCT Imaging of River Water Granuloma in a Child.","authors":"Anupama Janardhanan,Devanshi Patel,Meenakshi Ravindran","doi":"10.1001/jamaophthalmol.2026.0908","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2026.0908","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"5 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147733384","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}