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Impact of artificial intelligence on the availability, accessibility, acceptability and quality of ophthalmic disease screening services: a scoping review. 人工智能对眼科疾病筛查服务的可得性、可及性、可接受性和质量的影响:范围审查
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-13 DOI: 10.1136/bjo-2024-325174
Senlin Lin,Juzhao Zhang,Catherine Jan,Liping Li,Yajun Peng,Dan Qian,Yao Yin,Mengjia Zhang,Jianxiu Feng,Mingguang He,Haidong Zou
This scoping review examines the existing literature on the application of artificial intelligence (AI) in screening for eye diseases, with a focus on evaluating whether AI-assisted diagnostic technologies enhance the availability, accessibility, acceptability and quality of screening services. 42 original studies were selected for in-depth analysis, including those employing health economic evaluations. Methodological quality was assessed using the Mixed Methods Appraisal Tool, with the majority of studies demonstrating high quality-24 scored 5/5, 15 scored 4/5 and the rest scored 3/5. Among the included studies, 34 compared manual screening with either AI-assisted or fully AI-driven approaches. Availability was the most frequently studied aspect (28 studies), followed by acceptability (12 studies), whereas accessibility and service quality were less commonly addressed. Overall, AI shows significant potential to improve the cost-effectiveness of eye care services and enhance patient access, particularly in remote or underserved regions. It was also well-accepted by patients, with high satisfaction and improved referral compliance. The findings suggest that AI holds promise for advancing eye disease screening, although large-scale, long-term trials are needed to effectively integrate AI into the reconstruction of screening processes and the reshaping of eye health service systems.
本综述综述了人工智能(AI)在眼病筛查中的应用,重点是评估人工智能辅助诊断技术是否提高了筛查服务的可用性、可及性、可接受性和质量。选择了42项原始研究进行深入分析,包括采用卫生经济评价的研究。使用混合方法评估工具评估方法学质量,大多数研究显示高质量-24个获得5/ 5,15个获得4/5,其余获得3/5。在纳入的研究中,34项比较了人工筛查与人工智能辅助或完全人工智能驱动的方法。可用性是最常被研究的方面(28项研究),其次是可接受性(12项研究),而可及性和服务质量则较少被研究。总体而言,人工智能在提高眼科保健服务的成本效益和增加患者可及性方面显示出巨大潜力,特别是在偏远或服务不足的地区。患者也很接受,满意度高,转诊依从性提高。研究结果表明,人工智能有望推进眼病筛查,尽管需要大规模、长期的试验来有效地将人工智能整合到筛查过程的重建和眼卫生服务系统的重塑中。
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引用次数: 0
Prospective randomised controlled trial to compare tissue reactions and scarring with polypropylene versus polyglactin 910 sutures in periocular skin. 比较聚丙烯和聚乳酸910缝合线在眼周皮肤中的组织反应和瘢痕形成的前瞻性随机对照试验。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-12 DOI: 10.1136/bjo-2025-327724
Tessa Fayers,John S Vekinis,Laura Ah-Kye,David Parham,Priscilla Anketell,Justin Weir,Roger A'Hern,Ben Parkin
BACKGROUND/AIMSThe aim of this study was to compare tissue reactions and scarring produced by polypropylene (Prolene) versus polyglactin 910 (Vicryl) sutures in eyelid skin.METHODS47 patients with entropion were randomised to 6-0 Prolene or 6-0 Vicryl. Patients underwent everting sutures 1 month prior to definitive surgery involving wedge excision and retractor plication. Only the randomised suture type was used in both procedures. The study suture within the wedge was analysed histologically. Patients were assessed clinically 2 weeks and 6 months following definitive surgery.The primary outcome was histological inflammatory reaction diameter around the suture assessed by a masked histopathologist. Secondary outcomes were clinical scarring assessed using a validated scar grading questionnaire completed by patients and masked assessors and clinical photographs assessed by two masked oculoplastic surgeons.RESULTSMean inflammatory reaction diameter was 0.39 mm for Prolene and 0.56 mm for Vicryl. Median histological grade sum was 32 (IQR 22-37) for Prolene and 40 (IQR 27-46) for Vicryl. The median number of foreign body giant cells around the suture was 1 (IQR 0-3) for Prolene and 4 (IQR 3-8) for Vicryl. Only this last result was statistically significant; the lack of significance for other results may be due to the small sample size. One patient developed a clinical granuloma following surgery with Vicryl. There was no significant difference between suture scarring assessed by questionnaire responses or clinical photography.CONCLUSIONProlene may cause less histological inflammation than Vicryl in eyelid skin but clinical scarring is similar.TRIAL REGISTRATION NUMBERNCT04724512.
背景/目的本研究的目的是比较聚丙烯(Prolene)和聚乳酸910 (Vicryl)缝合在眼睑皮肤上产生的组织反应和疤痕。方法47例内翻患者随机分为6-0 Prolene组和6-0 Vicryl组。患者在最终手术前1个月进行缝合,包括楔形切除和牵开器的应用。两种手术均采用随机缝合方式。对楔形内的研究缝线进行组织学分析。患者在最终手术后2周和6个月进行临床评估。主要结果是由蒙面组织病理学家评估缝合周围的组织学炎症反应直径。次要结果是临床疤痕评估,使用经过验证的疤痕分级问卷,由患者和蒙面评估者完成,并由两名蒙面眼科整形外科医生评估临床照片。结果Prolene和Vicryl的平均炎症反应直径分别为0.39 mm和0.56 mm。Prolene的中位组织学分级为32 (IQR 22-37), Vicryl的中位组织学分级为40 (IQR 27-46)。缝线周围异物巨细胞的中位数为Prolene 1个(IQR 0 ~ 3), Vicryl 4个(IQR 3 ~ 8)。只有最后一个结果具有统计学意义;其他结果缺乏显著性可能是由于样本量小。一名患者在使用Vicryl手术后出现临床肉芽肿。通过问卷调查和临床摄影评估缝线瘢痕无显著差异。结论丙烯对眼睑皮肤的组织学炎症作用小于维柔利,但其临床瘢痕形成相似。试验注册号04724512。
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引用次数: 0
Visual outcomes in patients with bilateral early to moderate primary open-angle glaucoma following wavefront-shaping partial-range of field-extend intraocular lens implantation. 波前整形部分视野范围人工晶状体植入术后双侧早期至中度原发性开角型青光眼患者的视力结果。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-11 DOI: 10.1136/bjo-2025-328047
Mercè Guarro,Idoia Goñi Guarro,Elena López,Sergi Ruiz,Meritxell Vázquez,Laura Sararols,Sorcha Ní Dhubhghaill,Marc Biarnés
BACKGROUND/AIMSTo assess binocular visual performance, visual acuity at different contrast levels and visual disturbances in patients with primary open-angle glaucoma (POAG) undergoing bilateral cataract surgery with the placement of wavefront-shaping partial-range of field-extend (PROF-Ex) intraocular lens (IOL).DESIGNProspective, descriptive, single-arm study with 3 months of follow-up.METHODSPatients diagnosed with bilateral early-to-moderate POAG were included and underwent cataract surgery with implantation of a PROF-Ex IOL (AcrySof IQ Vivity, Alcon Healthcare) bilaterally. Postoperative outcomes were measured in binocular conditions for visual acuity (uncorrected and corrected at varying distances and contrast levels), contrast sensitivity and visual disturbances assessed through light distortion analysis in terms of the light distortion index (LDI) and best-fit circle radius.RESULTS27 patients were included, with a mean age of 74.2±8.1 years. Three months after surgery, binocular corrected visual acuities at 100% contrast were -0.01±0.06, 0.11±0.08 and 0.26±0.13 LogMAR for far, intermediate and near distance vision, respectively. Those at 25% contrast were 0.57±0.11 and 0.65±0.12 LogMAR for intermediate and near distance vision, respectively. The mean binocular contrast sensitivity was 1.63±0.11, and the mean LDI was 13.28±7.06. No significant adverse events were recorded.CONCLUSIONSThe wavefront-shaping PROF-Ex IOL technology shows positive outcomes in terms of visual acuity, contrast sensitivity and visual disturbances for patients with bilateral early-to-moderate POAG. Thus, wavefront-shaping PROF-Ex technology lenses can be a viable and effective option for patients with POAG seeking spectacle independence.
背景/目的:评价双侧白内障手术植入波前整形部分视场范围人工晶状体(IOL)的原发性开角型青光眼(POAG)患者的双眼视力、不同对比度下的视力和视力障碍。前瞻性、描述性、单臂研究,随访3个月。方法入选诊断为双侧早中度POAG的患者,行双侧白内障手术并植入profo - ex人工晶状体(acryysof IQ Vivity, Alcon Healthcare)。术后结果在双眼条件下测量视力(在不同距离和对比度水平下未矫正和矫正)、对比敏感度和视觉障碍,通过光畸变分析(光畸变指数(LDI))和最佳拟合圆半径来评估。结果纳入27例患者,平均年龄74.2±8.1岁。术后3个月双眼100%对比矫正视力远、中、近视力分别为-0.01±0.06、0.11±0.08、0.26±0.13 LogMAR。25%对比度的中、近距离视力分别为0.57±0.11和0.65±0.12 LogMAR。平均双眼对比敏感度为1.63±0.11,平均LDI为13.28±7.06。无明显不良事件记录。结论波前成形profo - ex人工晶状体技术对双侧早中度POAG患者的视力、对比敏感度和视力障碍均有良好的疗效。因此,波前成形profo - ex技术镜片对于寻求眼镜独立性的POAG患者是可行和有效的选择。
{"title":"Visual outcomes in patients with bilateral early to moderate primary open-angle glaucoma following wavefront-shaping partial-range of field-extend intraocular lens implantation.","authors":"Mercè Guarro,Idoia Goñi Guarro,Elena López,Sergi Ruiz,Meritxell Vázquez,Laura Sararols,Sorcha Ní Dhubhghaill,Marc Biarnés","doi":"10.1136/bjo-2025-328047","DOIUrl":"https://doi.org/10.1136/bjo-2025-328047","url":null,"abstract":"BACKGROUND/AIMSTo assess binocular visual performance, visual acuity at different contrast levels and visual disturbances in patients with primary open-angle glaucoma (POAG) undergoing bilateral cataract surgery with the placement of wavefront-shaping partial-range of field-extend (PROF-Ex) intraocular lens (IOL).DESIGNProspective, descriptive, single-arm study with 3 months of follow-up.METHODSPatients diagnosed with bilateral early-to-moderate POAG were included and underwent cataract surgery with implantation of a PROF-Ex IOL (AcrySof IQ Vivity, Alcon Healthcare) bilaterally. Postoperative outcomes were measured in binocular conditions for visual acuity (uncorrected and corrected at varying distances and contrast levels), contrast sensitivity and visual disturbances assessed through light distortion analysis in terms of the light distortion index (LDI) and best-fit circle radius.RESULTS27 patients were included, with a mean age of 74.2±8.1 years. Three months after surgery, binocular corrected visual acuities at 100% contrast were -0.01±0.06, 0.11±0.08 and 0.26±0.13 LogMAR for far, intermediate and near distance vision, respectively. Those at 25% contrast were 0.57±0.11 and 0.65±0.12 LogMAR for intermediate and near distance vision, respectively. The mean binocular contrast sensitivity was 1.63±0.11, and the mean LDI was 13.28±7.06. No significant adverse events were recorded.CONCLUSIONSThe wavefront-shaping PROF-Ex IOL technology shows positive outcomes in terms of visual acuity, contrast sensitivity and visual disturbances for patients with bilateral early-to-moderate POAG. Thus, wavefront-shaping PROF-Ex technology lenses can be a viable and effective option for patients with POAG seeking spectacle independence.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"150 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145728511","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}
引用次数: 0
Optical quality after ultrathin Descemet's stripping automated endothelial keratoplasty and Descemet's membrane endothelial keratoplasty: a randomised controlled clinical trial. 超薄Descemet剥离自动内皮角膜移植术和Descemet膜内皮角膜移植术后的光学质量:一项随机对照临床试验。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-11 DOI: 10.1136/bjo-2025-328970
Morten Brok Molbech Madsen,Anders Ivarsen,Jesper Hjortdal
AIMSTo investigate corneal higher order aberrations (HOAs), densitometry and whole-eye optical quality after ultrathin Descemet's stripping automated endothelial keratoplasty (UT-DSAEK), Descemet's membrane endothelial keratoplasty (DMEK) and cataract surgery and the association with visual function.METHODSThis predefined secondary analysis of a randomised trial included 72 patients with Fuchs' endothelial dystrophy (FED) and cataract for UT-DSAEK or DMEK combined with cataract surgery. Thirty-seven patients with cataract and healthy corneas served as controls and underwent cataract surgery alone.RESULTSTotal posterior HOAs were significantly higher 12 months after UT-DSAEK than DMEK (p<0.001) and higher after DMEK than in the control group (p<0.01).Total densitometry for the central (0-2 mm) and peripheral (2-6 mm) annular corneal zones was significantly higher 12 months after UT-DSAEK than DMEK (p<0.01 for both comparisons).Objective scatter index (OSI) was significantly higher 12 months after UT-DSAEK than DMEK (p<0.01) and higher after DMEK than in the control group (p<0.001). For patients treated with endothelial keratoplasty, visual acuity and OSI were significantly correlated (r2=0.55, p<0.001), as were contrast sensitivity and OSI (r2=0.37, p<0.001).CONCLUSIONSTotal posterior HOAs and OSI were higher 12 months after UT-DSAEK than after DMEK and higher after DMEK than after cataract surgery alone. Visual acuity and contrast sensitivity were correlated with OSI. Although DMEK surgery for FED provides excellent visual rehabilitation, the corneal optical quality remains suboptimal.TRIAL REGISTRATION NUMBERNCT04417959.
目的探讨超薄Descemet剥离自动内皮角膜移植术(t - dsaek)、Descemet膜内皮角膜移植术(DMEK)和白内障手术后角膜高阶像差(HOAs)、密度测定和全眼光学质量及其与视力的关系。方法:对72例Fuchs内皮细胞营养不良(FED)和白内障患者进行UT-DSAEK或DMEK联合白内障手术的随机试验进行预先确定的二次分析。37例白内障和健康角膜患者作为对照,单独进行白内障手术。结果UT-DSAEK术后12个月后总hoa高于DMEK组(p<0.001), DMEK组高于对照组(p<0.01)。UT-DSAEK术后12个月中央(0- 2mm)和周围(2- 6mm)角膜环带的总密度显著高于DMEK (p<0.01)。目的UT-DSAEK术后12个月的散点指数(OSI)明显高于DMEK组(p<0.01), DMEK组高于对照组(p<0.001)。对于接受内皮角膜移植术的患者,视力和OSI显著相关(r2=0.55, p<0.001),对比敏感度和OSI也显著相关(r2=0.37, p<0.001)。结论UT-DSAEK术后12个月的全后路hoa和OSI高于DMEK术后,DMEK术后高于单纯白内障手术。视敏度和对比敏感度与OSI相关。虽然DMEK手术为FED提供了良好的视力康复,但角膜光学质量仍然不理想。试验注册号:04417959。
{"title":"Optical quality after ultrathin Descemet's stripping automated endothelial keratoplasty and Descemet's membrane endothelial keratoplasty: a randomised controlled clinical trial.","authors":"Morten Brok Molbech Madsen,Anders Ivarsen,Jesper Hjortdal","doi":"10.1136/bjo-2025-328970","DOIUrl":"https://doi.org/10.1136/bjo-2025-328970","url":null,"abstract":"AIMSTo investigate corneal higher order aberrations (HOAs), densitometry and whole-eye optical quality after ultrathin Descemet's stripping automated endothelial keratoplasty (UT-DSAEK), Descemet's membrane endothelial keratoplasty (DMEK) and cataract surgery and the association with visual function.METHODSThis predefined secondary analysis of a randomised trial included 72 patients with Fuchs' endothelial dystrophy (FED) and cataract for UT-DSAEK or DMEK combined with cataract surgery. Thirty-seven patients with cataract and healthy corneas served as controls and underwent cataract surgery alone.RESULTSTotal posterior HOAs were significantly higher 12 months after UT-DSAEK than DMEK (p<0.001) and higher after DMEK than in the control group (p<0.01).Total densitometry for the central (0-2 mm) and peripheral (2-6 mm) annular corneal zones was significantly higher 12 months after UT-DSAEK than DMEK (p<0.01 for both comparisons).Objective scatter index (OSI) was significantly higher 12 months after UT-DSAEK than DMEK (p<0.01) and higher after DMEK than in the control group (p<0.001). For patients treated with endothelial keratoplasty, visual acuity and OSI were significantly correlated (r2=0.55, p<0.001), as were contrast sensitivity and OSI (r2=0.37, p<0.001).CONCLUSIONSTotal posterior HOAs and OSI were higher 12 months after UT-DSAEK than after DMEK and higher after DMEK than after cataract surgery alone. Visual acuity and contrast sensitivity were correlated with OSI. Although DMEK surgery for FED provides excellent visual rehabilitation, the corneal optical quality remains suboptimal.TRIAL REGISTRATION NUMBERNCT04417959.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"146 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145728482","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}
引用次数: 0
Efficacy of natamycin monotherapy versus combination therapy with voriconazole for fungal keratitis: a randomised clinical trial. 纳他霉素单药与伏立康唑联合治疗真菌性角膜炎的疗效:一项随机临床试验。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-09 DOI: 10.1136/bjo-2025-328695
Antonio Di Zazzo,Pier Luigi Surico,Uday Pratap Singh Parmar,Shilpa Tarini,Andrea De Luca,Bhagyasree Madduri,Nitin Mohan,Merle Fernandes
BACKGROUNDTo assess whether adjunctive topical voriconazole 1% offers additional benefit over natamycin 5% monotherapy in fungal keratitis, focusing on ulcer resolution, visual outcomes and safety.METHODSThis prospective, double-masked, randomised clinical trial was conducted at L.V. Prasad Eye Institute, India. A total of 108 adults with smear- or culture-positive fungal keratitis were randomised 1:1 to receive either natamycin 5% plus voriconazole 1% (combination therapy) or natamycin 5% plus placebo (monotherapy). Drops were instilled hourly for 72 hours, then tapered over 2 weeks. All patients also received oral ketoconazole and cycloplegics. The primary outcome was complete ulcer resolution with medical therapy alone, defined as epithelial closure with scarring without therapeutic penetrating keratoplasty. Secondary outcomes included time to epithelial healing, best-corrected visual acuity (BCVA) and adverse events.RESULTSOf 94 eyes completing follow-up (mean (SD) age, 50.4 (12.4) years; 66 (70%) male), complete healing occurred in 38 of 48 eyes (79.2%) in the combination group and 35 of 46 eyes (76.1%) in the monotherapy group (absolute difference, 3.1%; 95% CI -13.2% to 19.4%; p=0.70). Median time to epithelial healing was 38 days (IQR, 20-60) for combination therapy and 39 days (IQR, 21-61) for monotherapy (p=0.86). Final mean BCVA was 0.43 logMAR (logarithm of the minimum angle of resolution) versus 0.58 logMAR, respectively (p=0.07). In non-Aspergillus cases, natamycin monotherapy yielded better visual outcomes (p=0.048).CONCLUSIONSAdjunctive topical voriconazole did not significantly improve clinical outcomes compared with natamycin monotherapy. Natamycin 5% remains an effective first-line treatment, particularly in non-Aspergillus keratitis. Further studies are warranted to explore targeted roles for combination therapy.TRIAL REGISTRATION NUMBERNCT03230058.
背景:评估1%局部佐剂伏立康唑治疗真菌性角膜炎是否比5%纳他霉素单药治疗更有益处,重点关注溃疡消退、视力结果和安全性。方法本前瞻性、双盲、随机临床试验在印度L.V. Prasad眼科研究所进行。共有108名涂片或培养阳性的真菌性角膜炎成人被1:1随机分组,接受5%纳他霉素加1%伏立康唑(联合治疗)或5%纳他霉素加安慰剂(单药治疗)。滴剂每小时滴入72小时,然后在2周内逐渐减少。所有患者同时接受口服酮康唑和单眼麻痹治疗。主要结果是单纯药物治疗后溃疡完全消退,定义为上皮闭合伴瘢痕形成,无需治疗性穿透性角膜移植术。次要结局包括上皮愈合时间、最佳矫正视力(BCVA)和不良事件。结果94只眼完成随访,平均(SD)年龄50.4(12.4)岁;66例(70%)男性),联合治疗组48只眼中有38只(79.2%)完全愈合,单药治疗组46只眼中有35只(76.1%)完全愈合(绝对差值3.1%;95% CI -13.2% ~ 19.4%; p=0.70)。联合治疗的中位上皮愈合时间为38天(IQR, 20-60),单药治疗的中位上皮愈合时间为39天(IQR, 21-61) (p=0.86)。最终平均BCVA分别为0.43 logMAR(最小分辨角的对数)和0.58 logMAR (p=0.07)。在非曲霉病例中,纳他霉素单药治疗的视力效果更好(p=0.048)。结论与纳他霉素单药治疗相比,伏立康唑联合外用对临床疗效无显著改善。5%纳他霉素仍然是有效的一线治疗,特别是对非曲霉菌性角膜炎。需要进一步的研究来探索联合治疗的靶向作用。试验注册号:03230058。
{"title":"Efficacy of natamycin monotherapy versus combination therapy with voriconazole for fungal keratitis: a randomised clinical trial.","authors":"Antonio Di Zazzo,Pier Luigi Surico,Uday Pratap Singh Parmar,Shilpa Tarini,Andrea De Luca,Bhagyasree Madduri,Nitin Mohan,Merle Fernandes","doi":"10.1136/bjo-2025-328695","DOIUrl":"https://doi.org/10.1136/bjo-2025-328695","url":null,"abstract":"BACKGROUNDTo assess whether adjunctive topical voriconazole 1% offers additional benefit over natamycin 5% monotherapy in fungal keratitis, focusing on ulcer resolution, visual outcomes and safety.METHODSThis prospective, double-masked, randomised clinical trial was conducted at L.V. Prasad Eye Institute, India. A total of 108 adults with smear- or culture-positive fungal keratitis were randomised 1:1 to receive either natamycin 5% plus voriconazole 1% (combination therapy) or natamycin 5% plus placebo (monotherapy). Drops were instilled hourly for 72 hours, then tapered over 2 weeks. All patients also received oral ketoconazole and cycloplegics. The primary outcome was complete ulcer resolution with medical therapy alone, defined as epithelial closure with scarring without therapeutic penetrating keratoplasty. Secondary outcomes included time to epithelial healing, best-corrected visual acuity (BCVA) and adverse events.RESULTSOf 94 eyes completing follow-up (mean (SD) age, 50.4 (12.4) years; 66 (70%) male), complete healing occurred in 38 of 48 eyes (79.2%) in the combination group and 35 of 46 eyes (76.1%) in the monotherapy group (absolute difference, 3.1%; 95% CI -13.2% to 19.4%; p=0.70). Median time to epithelial healing was 38 days (IQR, 20-60) for combination therapy and 39 days (IQR, 21-61) for monotherapy (p=0.86). Final mean BCVA was 0.43 logMAR (logarithm of the minimum angle of resolution) versus 0.58 logMAR, respectively (p=0.07). In non-Aspergillus cases, natamycin monotherapy yielded better visual outcomes (p=0.048).CONCLUSIONSAdjunctive topical voriconazole did not significantly improve clinical outcomes compared with natamycin monotherapy. Natamycin 5% remains an effective first-line treatment, particularly in non-Aspergillus keratitis. Further studies are warranted to explore targeted roles for combination therapy.TRIAL REGISTRATION NUMBERNCT03230058.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"13 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710771","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}
引用次数: 0
Assessment of dry eye questionnaires in patients with and without glaucoma. 青光眼患者和非青光眼患者干眼问卷的评估。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-09 DOI: 10.1136/bjo-2025-327695
Giulia Coco,Giulia Piccotti,Leopoldo Rossi,Pasquale Fucci,Gianluca Manni
AIMTo compare the results of the Ocular Surface Disease Index (OSDI), 5-item Dry Eye Questionnaire (DEQ-5) and Symptom Assessment Questionnaire iN Dry Eye (SANDE) in patients without glaucoma and with glaucoma at different stages of severity.METHODSCross-sectional study including patients who underwent visual field (VF) testing, completed three dry eye disease (DED) questionnaires and had ocular surface examination. Glaucoma severity was staged by averaging the severity grade of both eyes using mean deviation (MD) thresholds as mild (MD≥-6 dB), moderate (-6>MD≥-12 dB) and advanced (MD<-12 dB). Questionnaire results, pairwise correlations and predictors for each questionnaire result were assessed.RESULTS147 patients with a mean age of 65.8±12.5 years were included. OSDI showed moderate-to-high correlations with DEQ-5 and SANDE in patients without glaucoma (n=43) and with mild-to-moderate (n=32 and n=56) VF damage (always ρ≥0.55; p<0.01 with DEQ-5 and ρ≥0.5; p<0.01 with SANDE); while correlations became low and non-significant in advanced glaucoma (n=16) (ρ:0.38; p=0.60 and ρ:0.41; p=0.464 with DEQ-5 and SANDE, respectively). Conversely, DEQ-5 and SANDE always showed significant correlations (ρ≥0.66; p<0.01). Linear regression showed the OSDI to be the only questionnaire affected by mean MD (p=0.002). Additionally, glaucoma patients were more frequently defined as symptomatic for DED using the OSDI compared with the DEQ-5 (65.4% vs 51.9%; p=0.0082).CONCLUSIONDED questionnaires showed different behaviours in patients with glaucoma. The OSDI failed to maintain its correlation with both the DEQ-5 and SANDE in advanced glaucoma stages and was the only questionnaire influenced by VF damage. Questionnaire choice may influence how DED symptoms are captured in glaucoma patients, particularly in advanced stages.
目的比较无青光眼和不同严重程度青光眼患者的眼表疾病指数(OSDI)、干眼5项问卷(DEQ-5)和干眼症状评估问卷(SANDE)的结果。方法横断面研究包括接受视野(VF)检查、完成3份干眼症(DED)问卷和眼表检查的患者。采用平均偏差(MD)阈值对两只眼睛的严重程度进行平均分级,分为轻度(MD≥-6 dB)、中度(MD≥-6 dB)和晚期(MD<-12 dB)。评估问卷结果、每项问卷结果的两两相关性及预测因子。结果纳入147例患者,平均年龄65.8±12.5岁。无青光眼患者(n=43)和轻至中度VF损伤患者(n=32和n=56)的OSDI与DEQ-5和SANDE呈中高相关性(ρ≥0.55,DEQ-5和ρ≥0.5均p<0.01, SANDE均p<0.01);而晚期青光眼相关性较低且不显著(n=16) (DEQ-5和SANDE分别为ρ:0.38; p=0.60和ρ:0.41; p=0.464)。反之,DEQ-5与SANDE均呈显著相关(ρ≥0.66;p<0.01)。线性回归显示OSDI是唯一受平均MD影响的问卷(p=0.002)。此外,与DEQ-5相比,使用OSDI的青光眼患者更常被定义为DED的症状(65.4% vs 51.9%; p=0.0082)。结论问卷调查显示青光眼患者的行为存在差异。在青光眼晚期,OSDI未能与DEQ-5和SANDE保持相关性,是唯一受VF损伤影响的问卷。问卷的选择可能会影响青光眼患者,特别是晚期青光眼患者如何捕捉DED症状。
{"title":"Assessment of dry eye questionnaires in patients with and without glaucoma.","authors":"Giulia Coco,Giulia Piccotti,Leopoldo Rossi,Pasquale Fucci,Gianluca Manni","doi":"10.1136/bjo-2025-327695","DOIUrl":"https://doi.org/10.1136/bjo-2025-327695","url":null,"abstract":"AIMTo compare the results of the Ocular Surface Disease Index (OSDI), 5-item Dry Eye Questionnaire (DEQ-5) and Symptom Assessment Questionnaire iN Dry Eye (SANDE) in patients without glaucoma and with glaucoma at different stages of severity.METHODSCross-sectional study including patients who underwent visual field (VF) testing, completed three dry eye disease (DED) questionnaires and had ocular surface examination. Glaucoma severity was staged by averaging the severity grade of both eyes using mean deviation (MD) thresholds as mild (MD≥-6 dB), moderate (-6>MD≥-12 dB) and advanced (MD<-12 dB). Questionnaire results, pairwise correlations and predictors for each questionnaire result were assessed.RESULTS147 patients with a mean age of 65.8±12.5 years were included. OSDI showed moderate-to-high correlations with DEQ-5 and SANDE in patients without glaucoma (n=43) and with mild-to-moderate (n=32 and n=56) VF damage (always ρ≥0.55; p<0.01 with DEQ-5 and ρ≥0.5; p<0.01 with SANDE); while correlations became low and non-significant in advanced glaucoma (n=16) (ρ:0.38; p=0.60 and ρ:0.41; p=0.464 with DEQ-5 and SANDE, respectively). Conversely, DEQ-5 and SANDE always showed significant correlations (ρ≥0.66; p<0.01). Linear regression showed the OSDI to be the only questionnaire affected by mean MD (p=0.002). Additionally, glaucoma patients were more frequently defined as symptomatic for DED using the OSDI compared with the DEQ-5 (65.4% vs 51.9%; p=0.0082).CONCLUSIONDED questionnaires showed different behaviours in patients with glaucoma. The OSDI failed to maintain its correlation with both the DEQ-5 and SANDE in advanced glaucoma stages and was the only questionnaire influenced by VF damage. Questionnaire choice may influence how DED symptoms are captured in glaucoma patients, particularly in advanced stages.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"5 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710775","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}
引用次数: 0
Cardiovascular risk following transient vision loss. 短暂性视力丧失后的心血管风险。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-09 DOI: 10.1136/bjo-2025-328605
Tasha Miller,Jim Shenchu Xie,Aljeena Rahat Qureshi,Brendan K Tao,Edward Margolin
BACKGROUND/AIMSTo evaluate short- and long-term cardiovascular risk following a first diagnosis of transient vision loss (TVL) compared with matched controls using the TriNetX research network.METHODSPatients with an incident diagnosis of TVL were retrospectively identified and 1:1 propensity score matched to controls with dry eye syndrome. Primary outcomes included major adverse cardiovascular events (MACE), stroke, myocardial infarction (MI), ventricular arrhythmias, venous thromboembolism (VTE), hospitalisation and all-cause mortality. Cox proportional hazards models estimated hazard ratios (HRs) from 14 days to 10 years. Subgroup analyses evaluated patients free of events at 90 days and 1 year.RESULTSAfter matching, 37 750 patients were included in each cohort. Mean (SD) age was 56.8 (16.8) years in the TVL cohort (59.7% female) and 56.6 (16.3) years in the control cohort (58.9% female). Within 14 days, stroke risk increased over 21-fold (HR 21.7; 95% CI 13.4 to 37.4), MACE nearly 10-fold (HR 9.80; 95% CI 7.19 to 13.34), arrhythmia over fourfold (HR 4.01; 95% CI 2.72 to 5.90), MI fivefold (HR 5.00; 95% CI 1.92 to 12.06) and hospitalisation nearly fourfold (HR 3.83; 95% CI, 3.52 to 4.17) compared with controls. VTE risk was modest and transient, with no elevation beyond 5 years and all-cause mortality was not elevated at any time point. Among patients' event-free at 90 days or 1 year, elevated long-term risk persisted up to 10 years for MACE, stroke, arrhythmiaand hospitalisation.CONCLUSIONSTVL is associated with increased short- and long-term risks of MACE, stroke, MI, arrhythmia and hospitalisation, warranting prompt systemic evaluation and long-term monitoring.
背景/目的:利用TriNetX研究网络评估首次诊断为短暂性视力丧失(TVL)后与匹配对照组的短期和长期心血管风险。方法回顾性分析诊断为TVL的患者,并与干眼综合征对照组进行1:1倾向评分匹配。主要结局包括主要不良心血管事件(MACE)、中风、心肌梗死(MI)、室性心律失常、静脉血栓栓塞(VTE)、住院和全因死亡率。Cox比例风险模型估计了14天至10年的风险比(hr)。亚组分析评估患者在90天和1年内无事件发生。结果匹配后,每个队列共纳入37750例患者。TVL组(59.7%为女性)的平均(SD)年龄为56.8(16.8)岁,对照组(58.9%为女性)的平均(SD)年龄为56.6(16.3)岁。14天内,与对照组相比,卒中风险增加超过21倍(HR 21.7; 95% CI 13.4至37.4),MACE风险增加近10倍(HR 9.80; 95% CI 7.19至13.34),心律失常风险增加超过4倍(HR 4.01; 95% CI 2.72至5.90),MI风险增加5倍(HR 5.00; 95% CI 1.92至12.06),住院风险增加近4倍(HR 3.83; 95% CI 3.52至4.17)。静脉血栓栓塞的风险是适度和短暂的,5年后没有升高,全因死亡率在任何时间点都没有升高。在90天或1年内无事件的患者中,MACE、中风、心律失常和住院治疗的长期风险升高持续至10年。结论stvl与MACE、卒中、心肌梗死、心律失常和住院治疗的短期和长期风险增加相关,需要及时进行系统评估和长期监测。
{"title":"Cardiovascular risk following transient vision loss.","authors":"Tasha Miller,Jim Shenchu Xie,Aljeena Rahat Qureshi,Brendan K Tao,Edward Margolin","doi":"10.1136/bjo-2025-328605","DOIUrl":"https://doi.org/10.1136/bjo-2025-328605","url":null,"abstract":"BACKGROUND/AIMSTo evaluate short- and long-term cardiovascular risk following a first diagnosis of transient vision loss (TVL) compared with matched controls using the TriNetX research network.METHODSPatients with an incident diagnosis of TVL were retrospectively identified and 1:1 propensity score matched to controls with dry eye syndrome. Primary outcomes included major adverse cardiovascular events (MACE), stroke, myocardial infarction (MI), ventricular arrhythmias, venous thromboembolism (VTE), hospitalisation and all-cause mortality. Cox proportional hazards models estimated hazard ratios (HRs) from 14 days to 10 years. Subgroup analyses evaluated patients free of events at 90 days and 1 year.RESULTSAfter matching, 37 750 patients were included in each cohort. Mean (SD) age was 56.8 (16.8) years in the TVL cohort (59.7% female) and 56.6 (16.3) years in the control cohort (58.9% female). Within 14 days, stroke risk increased over 21-fold (HR 21.7; 95% CI 13.4 to 37.4), MACE nearly 10-fold (HR 9.80; 95% CI 7.19 to 13.34), arrhythmia over fourfold (HR 4.01; 95% CI 2.72 to 5.90), MI fivefold (HR 5.00; 95% CI 1.92 to 12.06) and hospitalisation nearly fourfold (HR 3.83; 95% CI, 3.52 to 4.17) compared with controls. VTE risk was modest and transient, with no elevation beyond 5 years and all-cause mortality was not elevated at any time point. Among patients' event-free at 90 days or 1 year, elevated long-term risk persisted up to 10 years for MACE, stroke, arrhythmiaand hospitalisation.CONCLUSIONSTVL is associated with increased short- and long-term risks of MACE, stroke, MI, arrhythmia and hospitalisation, warranting prompt systemic evaluation and long-term monitoring.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"7 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710751","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}
引用次数: 0
Development of a core outcome set for patients with epiretinal membranes: a Delphi consensus study. 开发视网膜前膜患者的核心结局集:德尔菲共识研究。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-08 DOI: 10.1136/bjo-2025-327811
Teresa Sandinha,Jignasa Mehta,Kodchawan Doungsong,Rhiannon Tudor Edwards,David H W Steel,Deirdre A Lane,
BACKGROUND/AIMSIdiopathic epiretinal membrane (iERM) can affect vision in complex ways, requiring assessment beyond visual acuity. We developed a core outcome set (COS) for patients undergoing surgery for macular pucker secondary to iERMs for use in both clinical practice and clinical trials.METHODSAn online modified Delphi technique was used, incorporating literature review, stakeholder workshops and two-round Delphi survey, each followed by a hybrid consensus meeting. Stakeholders, including health professionals and patients rated the importance of each outcome on a 9-point Likert scale (1-3, not important; 4-6, important; 7-9, very important). Outcomes scored as 'very important' by ≥80% of stakeholders were included in the COS.RESULTSSixty-two outcomes were initially included. Only one outcome reached consensus after the first vote, a further 10 after the second vote and five in the final vote. After discussion and considering clinical relevance and patient importance, the initial list of 17 outcomes was reduced to 13 core outcomes, grouped into six overarching domains: measured visual function, symptoms, adverse events, functional ability, quality of life and other, including objective measurements of anatomical findings.CONCLUSIONA minimum COS for iERMS comprising 13 outcomes covering six domains was generated by the modified Delphi process. The COS is not yet ready for use as the methods of assessment and the time points remain to be determined before it can be used in practice. Future research will test the implementation of the COS in clinical practice and its' potential incorporation into future trials.
背景/AIMSIdiopathic retineperm (iERM)可以以复杂的方式影响视力,需要视力以外的评估。我们为接受ierm继发黄斑皱褶手术的患者制定了一个核心结局集(COS),用于临床实践和临床试验。方法采用在线改进的德尔菲法,结合文献综述、利益相关者研讨会和两轮德尔菲调查,每轮调查后举行一次混合共识会议。包括卫生专业人员和患者在内的利益相关者以9分的李克特量表(1-3分,不重要;4-6分,重要;7-9分,非常重要)对每个结果的重要性进行评分。被≥80%的利益相关者评分为“非常重要”的结果被纳入COS。结果初步纳入62个结局。第一次投票后只有一项结果达成共识,第二次投票后又有10项,最后一次投票中有5项。在讨论和考虑临床相关性和患者重要性后,最初的17个结果列表减少到13个核心结果,分为6个总体领域:测量的视觉功能、症状、不良事件、功能能力、生活质量和其他,包括解剖结果的客观测量。结论采用改进的德尔菲法得到了iERMS的最小COS值,包含6个域的13个结果。由于评估方法和时间点有待确定,因此COS尚未准备就绪,才能在实践中使用。未来的研究将测试COS在临床实践中的实施及其在未来试验中的潜在应用。
{"title":"Development of a core outcome set for patients with epiretinal membranes: a Delphi consensus study.","authors":"Teresa Sandinha,Jignasa Mehta,Kodchawan Doungsong,Rhiannon Tudor Edwards,David H W Steel,Deirdre A Lane, ","doi":"10.1136/bjo-2025-327811","DOIUrl":"https://doi.org/10.1136/bjo-2025-327811","url":null,"abstract":"BACKGROUND/AIMSIdiopathic epiretinal membrane (iERM) can affect vision in complex ways, requiring assessment beyond visual acuity. We developed a core outcome set (COS) for patients undergoing surgery for macular pucker secondary to iERMs for use in both clinical practice and clinical trials.METHODSAn online modified Delphi technique was used, incorporating literature review, stakeholder workshops and two-round Delphi survey, each followed by a hybrid consensus meeting. Stakeholders, including health professionals and patients rated the importance of each outcome on a 9-point Likert scale (1-3, not important; 4-6, important; 7-9, very important). Outcomes scored as 'very important' by ≥80% of stakeholders were included in the COS.RESULTSSixty-two outcomes were initially included. Only one outcome reached consensus after the first vote, a further 10 after the second vote and five in the final vote. After discussion and considering clinical relevance and patient importance, the initial list of 17 outcomes was reduced to 13 core outcomes, grouped into six overarching domains: measured visual function, symptoms, adverse events, functional ability, quality of life and other, including objective measurements of anatomical findings.CONCLUSIONA minimum COS for iERMS comprising 13 outcomes covering six domains was generated by the modified Delphi process. The COS is not yet ready for use as the methods of assessment and the time points remain to be determined before it can be used in practice. Future research will test the implementation of the COS in clinical practice and its' potential incorporation into future trials.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"29 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710866","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}
引用次数: 0
Peripheral retinal lesions in highly myopic children: prevalence, types and biometric correlates. 高度近视儿童视网膜周围病变:患病率、类型和生物统计学相关性。
IF 3.5 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-07 DOI: 10.1136/bjo-2025-328456
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。
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引用次数: 0
Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing. 基于全外显子组测序的早发性高度近视基因突变谱分析。
IF 4.1 2区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-12-04 DOI: 10.1136/bjo-2025-327552
Liyin Wang,Jian Cao,Dongmei Yang,Yanze Yu,Zhanying Wang,Shilai Xing,Mingcheng Wang,Xiaoguang Yu,Xingtao Zhou,Jing Zhao
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}
引用次数: 0
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British Journal of Ophthalmology
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