Jacques Bijon, Louise Brach, Etienne Boulanger, Ismael Chehaibou, Aude Couturier, Songhomitra Panda-Jonas, Youssef Abdelmassih, Sophie Bonnin, Georges Caputo, Thibaut Chapron
Aims: To evaluate prevalence, types and biometric predictors of peripheral retinal lesions in highly myopic children.
Methods: Retrospective cross-sectional study at a tertiary centre. Participants were aged 4-17 years with high myopia (≤-4.00 dioptres (D) at 4-6 years; ≤-6.00 D at 7-17 years). Peripheral retina was assessed by ultra-widefield imaging (UWF) and/or documented dilated ophthalmoscopy.
Results: We analysed 160 eyes from 89 children (mean age 10.4±3.8 years; mean spherical equivalent -9.95±3.59 D; mean axial length (AL) 26.68±1.82 mm). Peripheral lesions were present in 87/160 eyes (54.4%), more frequent in 7-17-year-olds than in 4-6-year-olds (59.4% vs 34.4%) (p<0.05). Among affected eyes, 50/87 (57%) had a single lesion and 37/87 (43%) multiple; multiplicity increased with age (p<0.001). The most frequent lesions were dark without pressure (46/160; 28.7%), white without pressure (32/160; 20.0%), snail-track degeneration (15/160; 9.4%), microcystoid degeneration (11/160; 6.9%) and lattice degeneration (10/160; 6.3%). In multivariate models, AL was the strongest independent predictor of both lesion prevalence (OR=1.45; 95% CI 1.07 to 2.03; p=0.021) and multiplicity (OR=2.17; 95% CI 1.53 to 3.07; p<0.001). Model-derived lesion probability reached 50% at AL 26.2 mm and 80% at 29.4 mm.
Conclusions: Peripheral retinal lesions are common in paediatric high myopia and related strongly to AL. Early peripheral retinal assessment using UWF imaging or thorough dilated examination may enhance risk stratification and surveillance.
目的：评价高度近视儿童视网膜周围病变的患病率、类型和生物特征预测指标。方法：回顾性横断面研究在三级中心。参与者年龄4-17岁，高度近视(4-6岁≤-4.00屈光度(D)；7-17岁≤-6.00 D)。外周视网膜通过超宽视场成像（UWF）和/或有记录的散瞳验光检查进行评估。结果：我们分析了89例儿童的160只眼睛，平均年龄10.4±3.8岁，平均球等效-9.95±3.59 D，平均轴长（AL） 26.68±1.82 mm。160只眼睛中有87只（54.4%）存在外周病变，7-17岁的发生率高于4-6岁的发生率（59.4% vs 34.4%）。结论：外周视网膜病变在儿童高度近视中很常见，与AL密切相关。早期使用UWF成像或彻底的扩张性检查进行外周视网膜评估可以加强风险分层和监测。
{"title":"Peripheral retinal lesions in highly myopic children: prevalence, types and biometric correlates.","authors":"Jacques Bijon, Louise Brach, Etienne Boulanger, Ismael Chehaibou, Aude Couturier, Songhomitra Panda-Jonas, Youssef Abdelmassih, Sophie Bonnin, Georges Caputo, Thibaut Chapron","doi":"10.1136/bjo-2025-328456","DOIUrl":"https://doi.org/10.1136/bjo-2025-328456","url":null,"abstract":"<p><strong>Aims: </strong>To evaluate prevalence, types and biometric predictors of peripheral retinal lesions in highly myopic children.</p><p><strong>Methods: </strong>Retrospective cross-sectional study at a tertiary centre. Participants were aged 4-17 years with high myopia (≤-4.00 dioptres (D) at 4-6 years; ≤-6.00 D at 7-17 years). Peripheral retina was assessed by ultra-widefield imaging (UWF) and/or documented dilated ophthalmoscopy.</p><p><strong>Results: </strong>We analysed 160 eyes from 89 children (mean age 10.4±3.8 years; mean spherical equivalent -9.95±3.59 D; mean axial length (AL) 26.68±1.82 mm). Peripheral lesions were present in 87/160 eyes (54.4%), more frequent in 7-17-year-olds than in 4-6-year-olds (59.4% vs 34.4%) (p<0.05). Among affected eyes, 50/87 (57%) had a single lesion and 37/87 (43%) multiple; multiplicity increased with age (p<0.001). The most frequent lesions were dark without pressure (46/160; 28.7%), white without pressure (32/160; 20.0%), snail-track degeneration (15/160; 9.4%), microcystoid degeneration (11/160; 6.9%) and lattice degeneration (10/160; 6.3%). In multivariate models, AL was the strongest independent predictor of both lesion prevalence (OR=1.45; 95% CI 1.07 to 2.03; p=0.021) and multiplicity (OR=2.17; 95% CI 1.53 to 3.07; p<0.001). Model-derived lesion probability reached 50% at AL 26.2 mm and 80% at 29.4 mm.</p><p><strong>Conclusions: </strong>Peripheral retinal lesions are common in paediatric high myopia and related strongly to AL. Early peripheral retinal assessment using UWF imaging or thorough dilated examination may enhance risk stratification and surveillance.</p>","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146140631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AIMThis study aimed to identify the loci of gene mutations associated with high myopia, analyse the genetic mutation spectrum characteristics for early onset high myopia (eo-HM) and explore the application of polygenic risk scores (PRSs) in predicting eo-HM.METHODSWhole-exome sequencing (WES) and ophthalmic measurements were performed on participants with high myopia, and the mutation results were further verified by copy number variation sequencing, long range PCR and Sanger sequencing. Participants were classified into eo-HM (onset age<7 years and binocular spherical equivalent refraction <-6.0 dioptres (D)) and late-onset high myopia (lo-HM). PRS was calculated and assessed for eo-HM prediction accuracy through receiver operating characteristic (ROC) curve metrics.RESULTSThe participants comprised 100 patients with high myopia. WES identified 36 variants across 35 of 100 patients (35.00%), with the eo-HM group exhibiting a significantly higher detection rate (56.52%) than the lo-HM group (16.67%) (p<0.001). COL2A1 c.1221+1G>A, ARR3 c.41T>C, GLRA2 c.1006G>A, ZEB1 c.1672C>T and HDAC8 c.466A>G were recognised as de novo mutation loci in eo-HM. TCF7L2, AIPL1, INPP5E and the promoter mutation of SALL4 were identified as novel potential pathogenic mutations for high myopia (HM). Genetic mutations related to retinal diseases were more frequently observed in the eo-HM group than in the lo-HM group (p<0.01). ROC curve analysis signified that PRS had acceptable predicting ability for eo-HM (area under the curve=0.70).CONCLUSIONThis study expands the eo-HM mutational spectrum and proposes novel HM pathogenic genes. PRS demonstrates a certain ability to predict eo-HM.
目的确定与高度近视相关的基因突变位点，分析早发性高度近视（eo-HM）的基因突变谱特征，探讨多基因风险评分（PRSs）在预测早发性高度近视（eo-HM）中的应用。方法对高度近视患者进行全外显子组测序（WES）和眼科测量，并通过拷贝数变异测序、远程PCR和Sanger测序进一步验证突变结果。参与者被分为eo-HM（发病年龄ea）、ARR3 C . 41t b> C、GLRA2 C . 1006g >A、ZEB1 C . 1672c >T和HDAC8 C . 466a >G，这些基因被认为是eo-HM的新突变位点。TCF7L2、AIPL1、INPP5E和SALL4启动子突变被确定为高度近视（HM）的新型潜在致病突变。eo-HM组视网膜病变相关基因突变发生率高于low - hm组（p<0.01）。ROC曲线分析表明，PRS对eo-HM有较好的预测能力（曲线下面积=0.70）。结论本研究扩大了eo-HM突变谱，提出了新的HM致病基因。PRS对eo-HM具有一定的预测能力。
{"title":"Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.","authors":"Liyin Wang,Jian Cao,Dongmei Yang,Yanze Yu,Zhanying Wang,Shilai Xing,Mingcheng Wang,Xiaoguang Yu,Xingtao Zhou,Jing Zhao","doi":"10.1136/bjo-2025-327552","DOIUrl":"https://doi.org/10.1136/bjo-2025-327552","url":null,"abstract":"AIMThis study aimed to identify the loci of gene mutations associated with high myopia, analyse the genetic mutation spectrum characteristics for early onset high myopia (eo-HM) and explore the application of polygenic risk scores (PRSs) in predicting eo-HM.METHODSWhole-exome sequencing (WES) and ophthalmic measurements were performed on participants with high myopia, and the mutation results were further verified by copy number variation sequencing, long range PCR and Sanger sequencing. Participants were classified into eo-HM (onset age<7 years and binocular spherical equivalent refraction <-6.0 dioptres (D)) and late-onset high myopia (lo-HM). PRS was calculated and assessed for eo-HM prediction accuracy through receiver operating characteristic (ROC) curve metrics.RESULTSThe participants comprised 100 patients with high myopia. WES identified 36 variants across 35 of 100 patients (35.00%), with the eo-HM group exhibiting a significantly higher detection rate (56.52%) than the lo-HM group (16.67%) (p<0.001). COL2A1 c.1221+1G>A, ARR3 c.41T>C, GLRA2 c.1006G>A, ZEB1 c.1672C>T and HDAC8 c.466A>G were recognised as de novo mutation loci in eo-HM. TCF7L2, AIPL1, INPP5E and the promoter mutation of SALL4 were identified as novel potential pathogenic mutations for high myopia (HM). Genetic mutations related to retinal diseases were more frequently observed in the eo-HM group than in the lo-HM group (p<0.01). ROC curve analysis signified that PRS had acceptable predicting ability for eo-HM (area under the curve=0.70).CONCLUSIONThis study expands the eo-HM mutational spectrum and proposes novel HM pathogenic genes. PRS demonstrates a certain ability to predict eo-HM.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"5 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145673680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heesuk Kim,Hyunjo Jang,Hyoung Won Bae,Chan Yun Kim,Wungrak Choi
BACKGROUNDThis retrospective, comparative study evaluated the long-term impact of pars plana vitrectomy (PPV) for epiretinal membrane (ERM) removal on glaucoma progression, focusing on the influence of glaucoma severity and adjunctive internal limiting membrane (ILM) peeling.METHODSA total of 231 eyes from patients diagnosed with primary open-angle glaucoma and coexisting ERM were included. Participants were divided into two groups: 114 eyes underwent PPV for ERM removal (PPV group) and 117 eyes did not undergo surgery (non-PPV group). The PPV group was further subdivided based on glaucoma severity and ILM peeling. Functional and structural parameters were assessed over 4 years using visual field testing, intraocular pressure (IOP) measurement, and optical coherence tomography. Linear mixed models were used for statistical analysis.RESULTSThe PPV group demonstrated a significant deterioration in mean deviation and visual field index, compared with the non-PPV group, over 4 years (p<0.001). However, the rate of progression did not differ significantly based on glaucoma severity. Patients with severe glaucoma experienced a relatively greater functional burden. Adjunctive ILM peeling did not worsen functional or structural outcomes. IOP and medication use remained stable throughout the study period.CONCLUSIONSWhile associated with long-term visual field decline, PPV for symptomatic ERM demonstrates a consistent impact on glaucoma progression, irrespective of baseline disease severity. ILM peeling does not confer additional risk. These findings support individualised surgical decision-making based on patient symptoms rather than glaucoma stage alone.
{"title":"Impact of epiretinal membrane surgery on glaucoma progression: influence of glaucoma severity and internal limiting membrane peeling.","authors":"Heesuk Kim,Hyunjo Jang,Hyoung Won Bae,Chan Yun Kim,Wungrak Choi","doi":"10.1136/bjo-2025-327683","DOIUrl":"https://doi.org/10.1136/bjo-2025-327683","url":null,"abstract":"BACKGROUNDThis retrospective, comparative study evaluated the long-term impact of pars plana vitrectomy (PPV) for epiretinal membrane (ERM) removal on glaucoma progression, focusing on the influence of glaucoma severity and adjunctive internal limiting membrane (ILM) peeling.METHODSA total of 231 eyes from patients diagnosed with primary open-angle glaucoma and coexisting ERM were included. Participants were divided into two groups: 114 eyes underwent PPV for ERM removal (PPV group) and 117 eyes did not undergo surgery (non-PPV group). The PPV group was further subdivided based on glaucoma severity and ILM peeling. Functional and structural parameters were assessed over 4 years using visual field testing, intraocular pressure (IOP) measurement, and optical coherence tomography. Linear mixed models were used for statistical analysis.RESULTSThe PPV group demonstrated a significant deterioration in mean deviation and visual field index, compared with the non-PPV group, over 4 years (p<0.001). However, the rate of progression did not differ significantly based on glaucoma severity. Patients with severe glaucoma experienced a relatively greater functional burden. Adjunctive ILM peeling did not worsen functional or structural outcomes. IOP and medication use remained stable throughout the study period.CONCLUSIONSWhile associated with long-term visual field decline, PPV for symptomatic ERM demonstrates a consistent impact on glaucoma progression, irrespective of baseline disease severity. ILM peeling does not confer additional risk. These findings support individualised surgical decision-making based on patient symptoms rather than glaucoma stage alone.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"29 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145664022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PURPOSEThe Andhra Pradesh Eye Disease Study III (APEDS III) is a 15-year follow-up of participants examined in APEDS I. The aim of the study was to report the 15-year incidence of cataract surgery and its associated factors among rural populations.METHODSThis population-based longitudinal cohort study was conducted in three rural regions of the Indian state of Andhra Pradesh. Data on demographics, ocular and systemic history and risk factors were collected at both baseline and follow-up. Cataracts were classified into pure forms (nuclear, cortical, posterior subcapsular cataract (PSC)) and mixed cataract. Cataract types were defined using baseline assessment. Incidence of cataract surgery was defined as cataract surgery performed in either eye during the 15-year follow-up period among participants who did not have cataract surgery at baseline.RESULTSIn total, 2576 (47.7%) of 5395 participants aged 30 years and above at baseline were included, with a mean age of 42.9 years (SD±9.9) and 45% were men. The 15-year crude incidence risk of cataract surgery was 17.5% (95% CI 16.0% to 19.0%) and rate was 17.7 per 100 person-years (95% CI 17.3 to 18.1). In multivariable logistic regression, the incidence of cataract surgery was significantly higher among older adults (OR 11.09; 95% CI 6.92 to 17.78 in 60 years and above), participants with diabetes mellitus (OR 3.27; 95% CI 1.18 to 9.08), those with pure nuclear cataract (OR 2.27; 95% CI 1.56 to 3.30), pure cortical cataract (OR 3.22; 95% CI 1.79 to 5.79), pure PSC (OR 14.70; 95% CI 6.25 to 34.54) and mixed cataract (OR 6.60; 95% CI 4.13 to 10.55).CONCLUSIONSOur study found a significantly higher incidence rate of cataract surgery in rural south India. Targeted interventions are needed to enhance eye care services further and improve access to surgical care.
目的：安得拉邦眼病研究III （APEDS III）是一项为期15年的随访研究。该研究的目的是报告农村人口15年白内障手术发生率及其相关因素。方法在印度安得拉邦的三个农村地区进行了这项基于人群的纵向队列研究。在基线和随访期间收集了人口统计学、眼部和全身病史以及危险因素的数据。白内障分为单纯型（核型、皮质型、后囊下型）和混合型。采用基线评估确定白内障类型。白内障手术的发生率定义为在基线时未进行白内障手术的参与者在15年随访期间任意一只眼睛进行的白内障手术。结果5395名30岁及以上的参与者共纳入2576名（47.7%），平均年龄42.9岁（SD±9.9），其中45%为男性。白内障手术15年粗发生率为17.5% (95% CI 16.0% ~ 19.0%)，发生率为17.7 / 100人年（95% CI 17.3 ~ 18.1）。在多变量logistic回归中，白内障手术的发生率在老年人（60岁及以上人群中OR为11.09；95% CI为6.92至17.78）、糖尿病患者（OR为3.27；95% CI为1.18至9.08）、纯核性白内障患者（OR为2.27；95% CI为1.56至3.30）、纯皮质性白内障患者（OR为3.22；95% CI为1.79至5.79）、纯PSC患者（OR为14.70；95% CI为6.25至34.54）和混合性白内障患者（OR为6.60；95% CI为4.13至10.55）中明显较高。结论一项研究发现，印度南部农村白内障手术的发病率明显较高。需要有针对性的干预措施，以进一步加强眼科保健服务并改善获得外科护理的机会。
{"title":"Incidence and factors associated with incident cataract surgery in a rural population in the Indian state of Andhra Pradesh: findings from the Andhra Pradesh Eye Disease Study III.","authors":"Debananda Padhy,Rohit C Khanna,Srinivas Marmamula,Asha Latha Mettla,Pyda Giridhar,Seema Banerjee,Konegari Shekhar,Subhabrata Chakrabarti,Gullapalli Nageswara Rao","doi":"10.1136/bjo-2024-326664","DOIUrl":"https://doi.org/10.1136/bjo-2024-326664","url":null,"abstract":"PURPOSEThe Andhra Pradesh Eye Disease Study III (APEDS III) is a 15-year follow-up of participants examined in APEDS I. The aim of the study was to report the 15-year incidence of cataract surgery and its associated factors among rural populations.METHODSThis population-based longitudinal cohort study was conducted in three rural regions of the Indian state of Andhra Pradesh. Data on demographics, ocular and systemic history and risk factors were collected at both baseline and follow-up. Cataracts were classified into pure forms (nuclear, cortical, posterior subcapsular cataract (PSC)) and mixed cataract. Cataract types were defined using baseline assessment. Incidence of cataract surgery was defined as cataract surgery performed in either eye during the 15-year follow-up period among participants who did not have cataract surgery at baseline.RESULTSIn total, 2576 (47.7%) of 5395 participants aged 30 years and above at baseline were included, with a mean age of 42.9 years (SD±9.9) and 45% were men. The 15-year crude incidence risk of cataract surgery was 17.5% (95% CI 16.0% to 19.0%) and rate was 17.7 per 100 person-years (95% CI 17.3 to 18.1). In multivariable logistic regression, the incidence of cataract surgery was significantly higher among older adults (OR 11.09; 95% CI 6.92 to 17.78 in 60 years and above), participants with diabetes mellitus (OR 3.27; 95% CI 1.18 to 9.08), those with pure nuclear cataract (OR 2.27; 95% CI 1.56 to 3.30), pure cortical cataract (OR 3.22; 95% CI 1.79 to 5.79), pure PSC (OR 14.70; 95% CI 6.25 to 34.54) and mixed cataract (OR 6.60; 95% CI 4.13 to 10.55).CONCLUSIONSOur study found a significantly higher incidence rate of cataract surgery in rural south India. Targeted interventions are needed to enhance eye care services further and improve access to surgical care.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"30 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145664017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shu Ying Chen,Anni Ling,Poemen P Chan,Chukai Huang,Rumi Kawashima,Shinichi Usui,Kenji Matsushita,Pancy O Tam,Alvin L Young,Jason C Yam,Kohji Nishida,Motokazu Tsujikawa,Mingzhi Zhang,Chi Pui Pang,Clement C Tham,Li Jia Chen
PURPOSETo evaluate the associations of single-nucleotide polymorphisms (SNPs) in 17 loci with primary open-angle glaucoma (POAG) and subtypes in Chinese and Japanese.METHODS17 SNPs in 17 genes, selected from a recent genome-wide association study, were genotyped in a Hong Kong Chinese cohort of 1093 POAG patients, including 557 high-tension glaucoma (HTG) and 536 normal-tension glaucoma (NTG) patients, and 584 controls. Seven SNPs showing association in the Hong Kong cohort were genotyped in a Shantou Chinese cohort of 155 POAG patients and 380 controls and an Osaka Japanese cohort of 254 POAG patients and 207 controls. The SNP-disease association of individual and pooled cohorts was analysed.RESULTSIn combined Chinese and Japanese subjects, three SNPs were significantly associated with POAG: AFAP1 rs938604 (Pmeta =6.40×10-5, OR=0.70), FNDC3B rs62283813 (Pmeta =0.0050, OR=1.24) and GAS7 rs9913911 (Pmeta =0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with HTG: AFAP1 rs938604 (Pmeta =8.00×10-6, OR=0.59), FNDC3B rs62283813 (Pmeta =6.00×10-7, OR=1.55) and GAS7 rs9913911 (Pmeta =0.0040, OR=1.24). In addition, SPRED2 rs4414666 (Pmeta =8.00×10-4, OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.CONCLUSIONSThis study confirms AFAP1 rs938604, FNDC3B rs62283813, GAS7 rs9913911 and SPRED2 rs4414666 as HTG-specific loci in Chinese and Japanese populations. These findings provide new insights into the genetic architecture of POAG, highlighting distinct molecular mechanisms between HTG and NTG subtypes.
{"title":"Association of polymorphisms in 17 loci with primary open-angle glaucoma in Chinese and Japanese.","authors":"Shu Ying Chen,Anni Ling,Poemen P Chan,Chukai Huang,Rumi Kawashima,Shinichi Usui,Kenji Matsushita,Pancy O Tam,Alvin L Young,Jason C Yam,Kohji Nishida,Motokazu Tsujikawa,Mingzhi Zhang,Chi Pui Pang,Clement C Tham,Li Jia Chen","doi":"10.1136/bjo-2025-328041","DOIUrl":"https://doi.org/10.1136/bjo-2025-328041","url":null,"abstract":"PURPOSETo evaluate the associations of single-nucleotide polymorphisms (SNPs) in 17 loci with primary open-angle glaucoma (POAG) and subtypes in Chinese and Japanese.METHODS17 SNPs in 17 genes, selected from a recent genome-wide association study, were genotyped in a Hong Kong Chinese cohort of 1093 POAG patients, including 557 high-tension glaucoma (HTG) and 536 normal-tension glaucoma (NTG) patients, and 584 controls. Seven SNPs showing association in the Hong Kong cohort were genotyped in a Shantou Chinese cohort of 155 POAG patients and 380 controls and an Osaka Japanese cohort of 254 POAG patients and 207 controls. The SNP-disease association of individual and pooled cohorts was analysed.RESULTSIn combined Chinese and Japanese subjects, three SNPs were significantly associated with POAG: AFAP1 rs938604 (Pmeta =6.40×10-5, OR=0.70), FNDC3B rs62283813 (Pmeta =0.0050, OR=1.24) and GAS7 rs9913911 (Pmeta =0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with HTG: AFAP1 rs938604 (Pmeta =8.00×10-6, OR=0.59), FNDC3B rs62283813 (Pmeta =6.00×10-7, OR=1.55) and GAS7 rs9913911 (Pmeta =0.0040, OR=1.24). In addition, SPRED2 rs4414666 (Pmeta =8.00×10-4, OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.CONCLUSIONSThis study confirms AFAP1 rs938604, FNDC3B rs62283813, GAS7 rs9913911 and SPRED2 rs4414666 as HTG-specific loci in Chinese and Japanese populations. These findings provide new insights into the genetic architecture of POAG, highlighting distinct molecular mechanisms between HTG and NTG subtypes.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"81 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145664021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The authors report that standardised questionnaires are useful in assessing bleeding risks in patients with oculoplastic surgery. Acetylsalicylic acid, diabetes mellitus, renal disease and general anesthesia increase bleeding risk, while anticoagulants and an increased blood pressure do not. This study demonstrates the first use of an AI system for analysing efficiency metrics in live cataract surgery. Results demonstrate that real-time AI has potential to improve operative efficiency and surgical team training but this remains to be tested in non-research . The location, size and volume of clusters of defects on an initial visual field test may be predictive of subsequent repeatability. This may help distinguish eyes of subjects with a higher risk of repeatable defects. This study identifies underdiagnosed anxiety and depression disorders in glaucoma patients as a …
{"title":"At a glance","authors":"Daniel F P Larkin","doi":"10.1136/bjo-2025-328950","DOIUrl":"https://doi.org/10.1136/bjo-2025-328950","url":null,"abstract":"The authors report that standardised questionnaires are useful in assessing bleeding risks in patients with oculoplastic surgery. Acetylsalicylic acid, diabetes mellitus, renal disease and general anesthesia increase bleeding risk, while anticoagulants and an increased blood pressure do not. This study demonstrates the first use of an AI system for analysing efficiency metrics in live cataract surgery. Results demonstrate that real-time AI has potential to improve operative efficiency and surgical team training but this remains to be tested in non-research . The location, size and volume of clusters of defects on an initial visual field test may be predictive of subsequent repeatability. This may help distinguish eyes of subjects with a higher risk of repeatable defects. This study identifies underdiagnosed anxiety and depression disorders in glaucoma patients as a …","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"3 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145553434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sophie-Christin Kornelia Ernst,Pete R Jones,Gábor Mark Somfai,Matthias D Becker,Jan Henrik Terheyden
Patient-reported outcome measures (PROMs) reflect patients' abilities, difficulties and perceptions, but their use in ophthalmic care in Europe is unclear. We conducted a cross-sectional electronic survey among ophthalmologists in the UK, Germany and Switzerland to assess PROM use in routine care, their perceived value and implementation barriers. Only 31% of 112 respondents reported using PROMs, mostly in cataract care, with no differences across countries or clinical settings. Strikingly, perceived usefulness did not predict adoption. Reported barriers included staff and patient burden and uncertainty about instrument choice. To promote routine use of PROMs in ophthalmology, system-level integration and support are needed.
{"title":"Use of patient-reported outcome measures in everyday clinical practice in ophthalmology: results of a European multicountry survey.","authors":"Sophie-Christin Kornelia Ernst,Pete R Jones,Gábor Mark Somfai,Matthias D Becker,Jan Henrik Terheyden","doi":"10.1136/bjo-2025-328798","DOIUrl":"https://doi.org/10.1136/bjo-2025-328798","url":null,"abstract":"Patient-reported outcome measures (PROMs) reflect patients' abilities, difficulties and perceptions, but their use in ophthalmic care in Europe is unclear. We conducted a cross-sectional electronic survey among ophthalmologists in the UK, Germany and Switzerland to assess PROM use in routine care, their perceived value and implementation barriers. Only 31% of 112 respondents reported using PROMs, mostly in cataract care, with no differences across countries or clinical settings. Strikingly, perceived usefulness did not predict adoption. Reported barriers included staff and patient burden and uncertainty about instrument choice. To promote routine use of PROMs in ophthalmology, system-level integration and support are needed.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"38 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145644947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ji Hong Kim,Yunjin Kim,Kathy Michelle Oraha,Hae Min Park,Yu Jeong Kim,Han Woong Lim,Yoon-Kyoung Sung,Derek S Welsbie,Won June Lee
BACKGROUND/AIMSTo assess the incidence of glaucoma in patients with systemic lupus erythematosus (SLE) and to identify associated risk factors using a nationwide population-based cohort.METHODSThis retrospective cohort study analysed data from the Korean National Health Insurance Service (2008-2022). A total of 9682 patients with SLE were identified using ICD-10 code M32 and rare intractable disease code V136 and matched 1:1 to non-SLE controls by age and sex. The incidence of glaucoma (ICD-10 codes H40 and H42) and glaucoma suspect (H40.0) was assessed. Multivariate logistic regression was used to identify risk factors for glaucoma, including long-term corticosteroid use (≥180 days).RESULTSThe incidence of glaucoma was significantly higher in the SLE group than in controls (11.34% vs 3.74%; p<0.0001), with a greater prevalence in younger patients (<40 years) and females. Glaucoma suspect cases were also more common in the SLE group (35.56% vs 30.25%; p<0.0001). SLE was independently associated with glaucoma (adjusted OR: 2.00, 95% CI 1.69 to 2.38), and prolonged corticosteroid use further increased the risk (OR: 1.75, 95% CI 1.51 to 2.02). Annual incidence trends showed a rising pattern over time, especially among SLE patients.CONCLUSIONSSLE is associated with an increased risk of glaucoma, particularly among younger individuals and females. Prolonged corticosteroid therapy significantly contributes to this risk. These findings support the need for regular ophthalmic screening and judicious corticosteroid management in patients with SLE.
背景/目的：通过一项基于全国人群的队列研究，评估系统性红斑狼疮（SLE）患者青光眼的发病率，并确定相关的危险因素。方法本回顾性队列研究分析了韩国国民健康保险服务（2008-2022）的数据。使用ICD-10代码M32和罕见难治性疾病代码V136识别9682例SLE患者，按年龄和性别与非SLE对照组1:1匹配。评估青光眼（ICD-10代码H40和H42）和疑似青光眼（H40.0）的发生率。多因素logistic回归用于确定青光眼的危险因素，包括长期使用皮质类固醇（≥180天）。结果SLE组青光眼的发病率明显高于对照组（11.34% vs 3.74%, p<0.0001），且年轻患者（<40岁）和女性患病率较高。青光眼疑似病例在SLE组中也更为常见（35.56% vs 30.25%, p<0.0001）。SLE与青光眼独立相关（校正OR: 2.00, 95% CI 1.69 - 2.38），长期使用皮质类固醇进一步增加风险（OR: 1.75, 95% CI 1.51 - 2.02）。随着时间的推移，年发病率呈上升趋势，尤其是SLE患者。结论：ssle与青光眼风险增加有关，尤其是在年轻人和女性中。长期的皮质类固醇治疗显著增加了这种风险。这些发现支持SLE患者定期眼科筛查和明智的皮质类固醇治疗的必要性。
{"title":"Incidence of glaucoma in patients with systemic lupus erythematosus: a nationwide cohort study in South Korea.","authors":"Ji Hong Kim,Yunjin Kim,Kathy Michelle Oraha,Hae Min Park,Yu Jeong Kim,Han Woong Lim,Yoon-Kyoung Sung,Derek S Welsbie,Won June Lee","doi":"10.1136/bjo-2025-327897","DOIUrl":"https://doi.org/10.1136/bjo-2025-327897","url":null,"abstract":"BACKGROUND/AIMSTo assess the incidence of glaucoma in patients with systemic lupus erythematosus (SLE) and to identify associated risk factors using a nationwide population-based cohort.METHODSThis retrospective cohort study analysed data from the Korean National Health Insurance Service (2008-2022). A total of 9682 patients with SLE were identified using ICD-10 code M32 and rare intractable disease code V136 and matched 1:1 to non-SLE controls by age and sex. The incidence of glaucoma (ICD-10 codes H40 and H42) and glaucoma suspect (H40.0) was assessed. Multivariate logistic regression was used to identify risk factors for glaucoma, including long-term corticosteroid use (≥180 days).RESULTSThe incidence of glaucoma was significantly higher in the SLE group than in controls (11.34% vs 3.74%; p<0.0001), with a greater prevalence in younger patients (<40 years) and females. Glaucoma suspect cases were also more common in the SLE group (35.56% vs 30.25%; p<0.0001). SLE was independently associated with glaucoma (adjusted OR: 2.00, 95% CI 1.69 to 2.38), and prolonged corticosteroid use further increased the risk (OR: 1.75, 95% CI 1.51 to 2.02). Annual incidence trends showed a rising pattern over time, especially among SLE patients.CONCLUSIONSSLE is associated with an increased risk of glaucoma, particularly among younger individuals and females. Prolonged corticosteroid therapy significantly contributes to this risk. These findings support the need for regular ophthalmic screening and judicious corticosteroid management in patients with SLE.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"28 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145582970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Haojie Tong,Caiyun Cao,Shang Shi,Xiaoling Liu,Tingting Li,Shaojun Xu,Xiaoyan Wu,Shuman Tao,Fang-Biao Tao
BACKGROUNDGender disparities in vision impairment (VI) among Chinese children and adolescents persist over time. Assessment and prediction of secular trends and the disease burden associated with this disparity can optimise vision health practices.METHODSWe analysed data from the 2005, 2010, 2014 and 2019 Chinese National Surveys on Students Constitution and Health (CNSSCH), which included 874 640 students aged 7-18 years. Regional environmental factors comprised the Price Constant Index (PCI), health worker density, greenery coverage, intensity of light at night, annual patent grants of three kinds, population density, climate and air quality. Trends in VI burden were assessed and predicted using Chinese standard population and WHO population estimates. Mixed-effects models were employed to evaluate sex-based disparities in regional environmental factors and VI prevalence.RESULTSMale VI patients have surpassed females, with the gender disparity increasing from -8797.9 thousand in 2005 to 5941.9 thousand in 2030. The PCI (β=0, p=0), greenery coverage (β=0, p=0), intensity of light at night (β=0, p=0) and annual patent grants of three kinds (β=0, p<0) were positively associated with VI prevalence. Stronger associations were observed between VI in male and both PCI (male: β=0, p=0.; female: β=0, p=0) and annual patent grants of three kinds (male: β=0, p<0; female: β=0, p<0).CONCLUSIONSIn China, VI is more prevalent in females, yet the absolute number of patients is larger in males, with this disparity progressively increasing. Males demonstrate heightened susceptibility to regional environmental factors. These findings support incorporating sex-specific prevention measures into current vision protection policies.
{"title":"Gender disparities in the burden of vision impairment and regional environmental susceptibility among Chinese children and adolescents.","authors":"Haojie Tong,Caiyun Cao,Shang Shi,Xiaoling Liu,Tingting Li,Shaojun Xu,Xiaoyan Wu,Shuman Tao,Fang-Biao Tao","doi":"10.1136/bjo-2025-328078","DOIUrl":"https://doi.org/10.1136/bjo-2025-328078","url":null,"abstract":"BACKGROUNDGender disparities in vision impairment (VI) among Chinese children and adolescents persist over time. Assessment and prediction of secular trends and the disease burden associated with this disparity can optimise vision health practices.METHODSWe analysed data from the 2005, 2010, 2014 and 2019 Chinese National Surveys on Students Constitution and Health (CNSSCH), which included 874 640 students aged 7-18 years. Regional environmental factors comprised the Price Constant Index (PCI), health worker density, greenery coverage, intensity of light at night, annual patent grants of three kinds, population density, climate and air quality. Trends in VI burden were assessed and predicted using Chinese standard population and WHO population estimates. Mixed-effects models were employed to evaluate sex-based disparities in regional environmental factors and VI prevalence.RESULTSMale VI patients have surpassed females, with the gender disparity increasing from -8797.9 thousand in 2005 to 5941.9 thousand in 2030. The PCI (β=0, p=0), greenery coverage (β=0, p=0), intensity of light at night (β=0, p=0) and annual patent grants of three kinds (β=0, p<0) were positively associated with VI prevalence. Stronger associations were observed between VI in male and both PCI (male: β=0, p=0.; female: β=0, p=0) and annual patent grants of three kinds (male: β=0, p<0; female: β=0, p<0).CONCLUSIONSIn China, VI is more prevalent in females, yet the absolute number of patients is larger in males, with this disparity progressively increasing. Males demonstrate heightened susceptibility to regional environmental factors. These findings support incorporating sex-specific prevention measures into current vision protection policies.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145582969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jeremy C K Tan, Jack Phu, Katharina Bell, Ashish Agar, Jonathan Crowston, Giovanni Montesano
Aim: This study evaluates if characteristics (eg, location, size, volume) of clusters of defects on an initial visual field (VF) test were predictive of a repeatable defect in the subsequent two tests.
Methods: Retrospective cohort study of 197 eyes of 103 patients with healthy, suspect or early glaucoma. Using the initial VF pattern deviation probability grid, we defined the number of clusters (≥1 location of p<5%) and associated size (number of adjoining defect locations) and volume (sum of corresponding total deviation values) for each cluster stratified by the four probability levels (ie, p<5%; p<2%; p<1% and p<0.5%).
Results: Of 4424 locations with a defect of p<5%, only 1189 (26.9%) were repeatable. The size [area under the receiver operating characteristic curve (AUC) 0.80, CI 0.76 to 0.85)] and volume (AUC 0.80, CI 0.76 to 0.85) of clusters were predictive of a repeatable defect within the cluster. The optimal thresholds for predicting a repeatable location within each cluster at 95% specificity based on initial cluster size were >6 locations at p<5%, >4 locations at p<2%, >3 locations at p<1% and >2 locations at p<0.5%. Defining cluster defects by involvement of central or peripheral rim locations improved the predictive value compared with the entire 24-2 grid.
Conclusion: The location, size and volume of clusters of defects on an initial VF test may be predictive of subsequent repeatability. This may help distinguish eyes with a higher risk of repeatable defects.
{"title":"Prediction of repeatable glaucomatous visual field defects based on cluster characteristics.","authors":"Jeremy C K Tan, Jack Phu, Katharina Bell, Ashish Agar, Jonathan Crowston, Giovanni Montesano","doi":"10.1136/bjo-2025-327416","DOIUrl":"10.1136/bjo-2025-327416","url":null,"abstract":"<p><strong>Aim: </strong>This study evaluates if characteristics (eg, location, size, volume) of clusters of defects on an initial visual field (VF) test were predictive of a repeatable defect in the subsequent two tests.</p><p><strong>Methods: </strong>Retrospective cohort study of 197 eyes of 103 patients with healthy, suspect or early glaucoma. Using the initial VF pattern deviation probability grid, we defined the number of clusters (≥1 location of p<5%) and associated size (number of adjoining defect locations) and volume (sum of corresponding total deviation values) for each cluster stratified by the four probability levels (ie, p<5%; p<2%; p<1% and p<0.5%).</p><p><strong>Results: </strong>Of 4424 locations with a defect of p<5%, only 1189 (26.9%) were repeatable. The size [area under the receiver operating characteristic curve (AUC) 0.80, CI 0.76 to 0.85)] and volume (AUC 0.80, CI 0.76 to 0.85) of clusters were predictive of a repeatable defect within the cluster. The optimal thresholds for predicting a repeatable location within each cluster at 95% specificity based on initial cluster size were >6 locations at p<5%, >4 locations at p<2%, >3 locations at p<1% and >2 locations at p<0.5%. Defining cluster defects by involvement of central or peripheral rim locations improved the predictive value compared with the entire 24-2 grid.</p><p><strong>Conclusion: </strong>The location, size and volume of clusters of defects on an initial VF test may be predictive of subsequent repeatability. This may help distinguish eyes with a higher risk of repeatable defects.</p>","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":"1345-1350"},"PeriodicalIF":3.5,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12703268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号