Pub Date : 2026-01-02DOI: 10.1001/jamaophthalmol.2025.5657
Tomas S Aleman, Artur V Cideciyan
{"title":"Measuring Vision in Children Undergoing Retinal Gene Therapy.","authors":"Tomas S Aleman, Artur V Cideciyan","doi":"10.1001/jamaophthalmol.2025.5657","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.5657","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145889146","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 : 2026-01-02DOI: 10.1001/jamaophthalmol.2025.5454
T Y Alvin Liu, Neil M Bressler
{"title":"JAMA Ophthalmology-Eye on AI.","authors":"T Y Alvin Liu, Neil M Bressler","doi":"10.1001/jamaophthalmol.2025.5454","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.5454","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145889169","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 : 2026-01-02DOI: 10.1001/jamaophthalmol.2025.5492
Shabnam Raji, Robert Edward MacLaren, Peter Charbel Issa, Jasmina Cehajic-Kapetanovic
Importance: Recent insights into impaired glutamylation caused by distal truncating variants in RPGR ORF15 and its association with the cone-dominated phenotype have provided the first molecular evidence of a genotype-phenotype correlation in male individuals with X-linked RPGR-related retinal dystrophy, though this correlation remains unexplored in female carriers.
Objective: To characterize the clinical phenotype in female carriers of RPGR variants causing X-linked cone dystrophy in hemizygous male individuals.
Design, setting, and participants: This case-control study was conducted at a specialist genetics clinic from May to December 2024. A total of 11 patients were examined, including female carriers with RPGR variants causing cone dystrophy (n = 7) and age-similar female carriers of RPGR variants causing rod-cone dystrophy as controls (n = 4).
Exposures: RPGR variants associated with X-linked cone dystrophy in hemizygous male individuals.
Main outcomes and measures: Results of ophthalmic examination, multimodal retinal imaging, and functional testing.
Results: Seven female carriers aged 11 to 71 years were identified from RPGR cone dystrophy pedigrees. Visual acuity ranged from 6/4.8 to 6/7.5 (Snellen, 20/16 to 20/25), and 4 of the 7 participants experienced photophobia. Myopia and high cylindrical powers were common (6/7 [86%]), with myopia greater than -6.00 D in 2 patients. Fundus autofluorescence imaging revealed a diffuse, granular hyperautofluorescence pattern limited to the posterior pole, compared with the typical spoke pattern that extended into the far periphery in female carriers from RPGR rod-cone pedigrees. Green reflectance imaging most sensitively detected an abnormality in the form of an en face tapetallike sheen, which colocalized with a hyperreflective outer retinal band observed on optical coherence tomography. Ultra-widefield retinal imaging demonstrated no peripheral abnormalities. A mosaic pattern of reduced retinal sensitivity was found within the central 20° on microperimetry, which did not correlate with features observed on retinal imaging. Normal rod responses were measured on electroretinography, but average cone responses were 60.1% of the lower normal limit compared with 36% in male probands.
Conclusions and relevance: This study identified a distinct phenotype in female carriers of RPGR variants causing X-linked cone dystrophy. In this cohort, the phenotype was consistent with mild cone dysfunction and anatomical macular changes. Depending on X-inactivation skew and rate of disease progression, some female carriers may be suitable for emerging gene therapies currently in clinical trials for affected male individuals.
{"title":"Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy.","authors":"Shabnam Raji, Robert Edward MacLaren, Peter Charbel Issa, Jasmina Cehajic-Kapetanovic","doi":"10.1001/jamaophthalmol.2025.5492","DOIUrl":"10.1001/jamaophthalmol.2025.5492","url":null,"abstract":"<p><strong>Importance: </strong>Recent insights into impaired glutamylation caused by distal truncating variants in RPGR ORF15 and its association with the cone-dominated phenotype have provided the first molecular evidence of a genotype-phenotype correlation in male individuals with X-linked RPGR-related retinal dystrophy, though this correlation remains unexplored in female carriers.</p><p><strong>Objective: </strong>To characterize the clinical phenotype in female carriers of RPGR variants causing X-linked cone dystrophy in hemizygous male individuals.</p><p><strong>Design, setting, and participants: </strong>This case-control study was conducted at a specialist genetics clinic from May to December 2024. A total of 11 patients were examined, including female carriers with RPGR variants causing cone dystrophy (n = 7) and age-similar female carriers of RPGR variants causing rod-cone dystrophy as controls (n = 4).</p><p><strong>Exposures: </strong>RPGR variants associated with X-linked cone dystrophy in hemizygous male individuals.</p><p><strong>Main outcomes and measures: </strong>Results of ophthalmic examination, multimodal retinal imaging, and functional testing.</p><p><strong>Results: </strong>Seven female carriers aged 11 to 71 years were identified from RPGR cone dystrophy pedigrees. Visual acuity ranged from 6/4.8 to 6/7.5 (Snellen, 20/16 to 20/25), and 4 of the 7 participants experienced photophobia. Myopia and high cylindrical powers were common (6/7 [86%]), with myopia greater than -6.00 D in 2 patients. Fundus autofluorescence imaging revealed a diffuse, granular hyperautofluorescence pattern limited to the posterior pole, compared with the typical spoke pattern that extended into the far periphery in female carriers from RPGR rod-cone pedigrees. Green reflectance imaging most sensitively detected an abnormality in the form of an en face tapetallike sheen, which colocalized with a hyperreflective outer retinal band observed on optical coherence tomography. Ultra-widefield retinal imaging demonstrated no peripheral abnormalities. A mosaic pattern of reduced retinal sensitivity was found within the central 20° on microperimetry, which did not correlate with features observed on retinal imaging. Normal rod responses were measured on electroretinography, but average cone responses were 60.1% of the lower normal limit compared with 36% in male probands.</p><p><strong>Conclusions and relevance: </strong>This study identified a distinct phenotype in female carriers of RPGR variants causing X-linked cone dystrophy. In this cohort, the phenotype was consistent with mild cone dysfunction and anatomical macular changes. Depending on X-inactivation skew and rate of disease progression, some female carriers may be suitable for emerging gene therapies currently in clinical trials for affected male individuals.</p>","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":""},"PeriodicalIF":9.2,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12761763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145889195","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}
Pub Date : 2026-01-01DOI: 10.1001/jamaophthalmol.2025.6124
{"title":"Error in Open Access Status and in Results.","authors":"","doi":"10.1001/jamaophthalmol.2025.6124","DOIUrl":"10.1001/jamaophthalmol.2025.6124","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"144 1","pages":"114"},"PeriodicalIF":9.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12809361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989147","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}
Pub Date : 2026-01-01DOI: 10.1001/jamaophthalmol.2025.4652
Anokhi S Kholwadwala, Andrew G Lee
{"title":"Prediction of Optic Disc Edema Progression in Spaceflight.","authors":"Anokhi S Kholwadwala, Andrew G Lee","doi":"10.1001/jamaophthalmol.2025.4652","DOIUrl":"10.1001/jamaophthalmol.2025.4652","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"40-41"},"PeriodicalIF":9.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145563656","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 : 2026-01-01DOI: 10.1001/jamaophthalmol.2025.4370
Sobha Sivaprasad
{"title":"Retinal Sensitivity in Areas of Retinal Nonperfusion.","authors":"Sobha Sivaprasad","doi":"10.1001/jamaophthalmol.2025.4370","DOIUrl":"10.1001/jamaophthalmol.2025.4370","url":null,"abstract":"","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":" ","pages":"98"},"PeriodicalIF":9.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145400910","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 : 2025-12-26DOI: 10.1001/jamaophthalmol.2025.5103
Emily S Wong,Richard W Choy,Yuzhou Zhang,Hin Yin Chan,Li Jia Chen,Chi Pui Pang,Clement C Tham,Jason C Yam
ImportanceRetinopathy of prematurity (ROP) is a leading cause of childhood blindness, particularly in low- and middle-income countries. With advancements in neonatal care, a projected rising trend and burden of ROP-related vision loss necessitates attention.ObjectiveTo analyze global trends in ROP-related visual impairment from 1990 to 2021 and identify risk factors for increased prevalence of visual loss.Design, Setting, and ParticipantsThis cross-sectional study used the Global Burden of Disease 2021 dataset to identify ROP-related visual outcomes across 204 countries from 1990 to 2021. Socioeconomic and health care indicators were incorporated to identify risk factors for increased prevalence of visual loss, and machine-learning models were used for outcome forecasting until 2050. This analysis was conducted between January 1 and March 30, 2025.ExposurePremature birth.Main Outcome and MeasuresThe main outcome was global prevalence of ROP-related visual impairment, stratified by severity of visual impairment and the associated factors.ResultsA total of 8.79 million cases of ROP-related visual loss were documented between 1990 and 2021 (4.57 million male and 4.22 million female patients), and the number of cases globally remained stable during this time. Countries with a low social demographic index (SDI) (536 899 cases; 95% uncertainty interval [UI], 418 860-655 140 cases) and low-middle SDI (802 078 cases; 95% UI, 590 539-1 032 465 cases) accounted for the majority of ROP-related visual loss cases in 2021. Despite a sharp decline since the 2000s, prevalence of ROP-related blindness remains disproportionately high in low and low-middle SDI countries. The prevalence pattern shows a shifting burden of ROP-related visual impairment, with high-middle SDI countries in particular experiencing an increasing prevalence rate in all-grade visual loss related to ROP. Multivariable regression analysis found that a lower primary completion rate (estimate, -2.33 [95% CI, -3.11 to 1.55] cases per 100 000 people), higher out-of-pocket health care expense (estimate, 2.61 [95% CI, 1.86 to 3.35] cases per 100 000 people), lower social insurance coverage (estimate, -2.79 [95% CI, -3.76 to 1.82] cases per 100 000 people), lower prenatal screening coverage (estimate, -3.91 [95% CI, -4.63 to 3.19] cases per 100 000 people) and nursing staff density (estimate, -2.07 [95% CI, -3.03 to 1.11] cases per 100 000 people) were associated with higher visual loss prevalence. Projections indicate that without targeted interventions, the burden of ROP-related visual impairment will continue to escalate, particularly in high-middle and middle SDI regions.Conclusions and RelevanceThis cross-sectional study found that persistent disparities in ROP-related visual loss burden remain between socioeconomic contexts and SDI groups, especially in terms of ROP-related blindness. Addressing socioeconomic disparities, enhancing neonatal care access, and implementing universal ROP screening
{"title":"Global and Regional Trends in Retinopathy of Prematurity.","authors":"Emily S Wong,Richard W Choy,Yuzhou Zhang,Hin Yin Chan,Li Jia Chen,Chi Pui Pang,Clement C Tham,Jason C Yam","doi":"10.1001/jamaophthalmol.2025.5103","DOIUrl":"https://doi.org/10.1001/jamaophthalmol.2025.5103","url":null,"abstract":"ImportanceRetinopathy of prematurity (ROP) is a leading cause of childhood blindness, particularly in low- and middle-income countries. With advancements in neonatal care, a projected rising trend and burden of ROP-related vision loss necessitates attention.ObjectiveTo analyze global trends in ROP-related visual impairment from 1990 to 2021 and identify risk factors for increased prevalence of visual loss.Design, Setting, and ParticipantsThis cross-sectional study used the Global Burden of Disease 2021 dataset to identify ROP-related visual outcomes across 204 countries from 1990 to 2021. Socioeconomic and health care indicators were incorporated to identify risk factors for increased prevalence of visual loss, and machine-learning models were used for outcome forecasting until 2050. This analysis was conducted between January 1 and March 30, 2025.ExposurePremature birth.Main Outcome and MeasuresThe main outcome was global prevalence of ROP-related visual impairment, stratified by severity of visual impairment and the associated factors.ResultsA total of 8.79 million cases of ROP-related visual loss were documented between 1990 and 2021 (4.57 million male and 4.22 million female patients), and the number of cases globally remained stable during this time. Countries with a low social demographic index (SDI) (536 899 cases; 95% uncertainty interval [UI], 418 860-655 140 cases) and low-middle SDI (802 078 cases; 95% UI, 590 539-1 032 465 cases) accounted for the majority of ROP-related visual loss cases in 2021. Despite a sharp decline since the 2000s, prevalence of ROP-related blindness remains disproportionately high in low and low-middle SDI countries. The prevalence pattern shows a shifting burden of ROP-related visual impairment, with high-middle SDI countries in particular experiencing an increasing prevalence rate in all-grade visual loss related to ROP. Multivariable regression analysis found that a lower primary completion rate (estimate, -2.33 [95% CI, -3.11 to 1.55] cases per 100 000 people), higher out-of-pocket health care expense (estimate, 2.61 [95% CI, 1.86 to 3.35] cases per 100 000 people), lower social insurance coverage (estimate, -2.79 [95% CI, -3.76 to 1.82] cases per 100 000 people), lower prenatal screening coverage (estimate, -3.91 [95% CI, -4.63 to 3.19] cases per 100 000 people) and nursing staff density (estimate, -2.07 [95% CI, -3.03 to 1.11] cases per 100 000 people) were associated with higher visual loss prevalence. Projections indicate that without targeted interventions, the burden of ROP-related visual impairment will continue to escalate, particularly in high-middle and middle SDI regions.Conclusions and RelevanceThis cross-sectional study found that persistent disparities in ROP-related visual loss burden remain between socioeconomic contexts and SDI groups, especially in terms of ROP-related blindness. Addressing socioeconomic disparities, enhancing neonatal care access, and implementing universal ROP screening ","PeriodicalId":14518,"journal":{"name":"JAMA ophthalmology","volume":"46 1","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145830437","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}
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