首页 > 最新文献

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie最新文献

英文 中文
Bilateral sequential endogenous endophthalmitis due to Streptococcus pyogenes: case report and literature review. 化脓性链球菌所致双侧序贯内源性眼内炎1例并文献复习。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.005
Syed Ahmad, Changseok Lee, John Dickinson
{"title":"Bilateral sequential endogenous endophthalmitis due to Streptococcus pyogenes: case report and literature review.","authors":"Syed Ahmad, Changseok Lee, John Dickinson","doi":"10.1016/j.jcjo.2025.12.005","DOIUrl":"10.1016/j.jcjo.2025.12.005","url":null,"abstract":"","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Canadian ophthalmology assessment tool for surgery: a surgical assessment tool for ophthalmology training programs. 加拿大眼科手术评估工具:眼科培训计划的外科评估工具。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.014
Jeffrey M Mah, Meghan McConnell, Kaisra Esmail, Irfan N Kherani, Stephanie A Baxter, Bernard R Hurley, Michael D O'Connor, Chloe C Gottlieb

Objective: To develop a surgical assessment tool to evaluate the breadth of surgical procedures in which ophthalmology residents are required to gain competence and to validate this tool for cataract surgery.

Design: A questionnaire development study.

Participants: Ophthalmology residents and faculty at the University of Ottawa.

Methods: The Canadian Ophthalmology Assessment Tool for Surgery (COATS) was developed by a group of experts by modifying a previously validated assessment tool, the Ottawa Surgical Competency Operating Room Evaluation, and consists of 6 Likert scale items, 1 yes or no question assessing independence and 2 open-ended questions for narrative feedback. During a 2-year period, residents were evaluated on the performance of cataract surgery using the COATS. The primary outcome was the total COATS score, defined as the sum of the Likert scale items.

Results: A total of 165 COATS assessments were collected across 5 residents. Mean total COATS scores were lower for the first 2 months of training compared with the last 3 months of training (4.33 ± 0.25 vs 4.81 ± 0.03; p = 0.01; Cohen's d = 0.25) and for procedures where the resident was rated as "not independent" versus "independent" (4.26 ± 0.13 vs 4.74 ± 0.06; p = 0.006; Cohen's d = 0.13). There was a significant correlation between the number of cataract surgeries performed and the mean total COATS score (Pearson r = 0.20; p = 0.02). Forty-five COATS assessments per resident were required to obtain an overall reliability of 0.70, the accepted threshold for low-stakes assessments.

Conclusions: The COATS is a valid tool for the assessment of surgical competence in cataract surgery. There is also evidence that it is a reliable tool when completed multiple times per resident over the course of training.

目的:开发一种外科评估工具,以评估眼科住院医师需要获得能力的外科手术的广度,并验证该工具用于白内障手术的有效性。设计:问卷开发研究。参与者:渥太华大学眼科住院医师和教职员工。方法:加拿大眼科手术评估工具(COATS)由一组专家通过修改先前有效的评估工具渥太华手术能力手术室评估而开发,由6个李克特量表项目组成,1个是或否问题评估独立性,2个开放式问题用于叙述性反馈。在2年的时间里,住院医师使用COATS对白内障手术的表现进行了评估。主要结果是COATS总分,定义为李克特量表项目的总和。结果:共收集了5名居民的165份COATS评估。前2个月的平均总COATS评分低于后3个月的平均总COATS评分(4.33±0.25 vs 4.81±0.03;p = 0.01;Cohen's d = 0.25),住院医师被评为“不独立”与“独立”的程序(4.26±0.13 vs 4.74±0.06;p = 0.006;Cohen's d = 0.13)。白内障手术次数与平均总COATS评分有显著相关性(Pearson r = 0.20;p = 0.02)。每位居民需要进行45次COATS评估,才能获得0.70的总体可靠性,这是低利害关系评估的公认阈值。结论:COATS是评估白内障手术能力的有效工具。也有证据表明,如果在培训过程中每个住院医师完成多次,它是一个可靠的工具。
{"title":"The Canadian ophthalmology assessment tool for surgery: a surgical assessment tool for ophthalmology training programs.","authors":"Jeffrey M Mah, Meghan McConnell, Kaisra Esmail, Irfan N Kherani, Stephanie A Baxter, Bernard R Hurley, Michael D O'Connor, Chloe C Gottlieb","doi":"10.1016/j.jcjo.2025.12.014","DOIUrl":"10.1016/j.jcjo.2025.12.014","url":null,"abstract":"<p><strong>Objective: </strong>To develop a surgical assessment tool to evaluate the breadth of surgical procedures in which ophthalmology residents are required to gain competence and to validate this tool for cataract surgery.</p><p><strong>Design: </strong>A questionnaire development study.</p><p><strong>Participants: </strong>Ophthalmology residents and faculty at the University of Ottawa.</p><p><strong>Methods: </strong>The Canadian Ophthalmology Assessment Tool for Surgery (COATS) was developed by a group of experts by modifying a previously validated assessment tool, the Ottawa Surgical Competency Operating Room Evaluation, and consists of 6 Likert scale items, 1 yes or no question assessing independence and 2 open-ended questions for narrative feedback. During a 2-year period, residents were evaluated on the performance of cataract surgery using the COATS. The primary outcome was the total COATS score, defined as the sum of the Likert scale items.</p><p><strong>Results: </strong>A total of 165 COATS assessments were collected across 5 residents. Mean total COATS scores were lower for the first 2 months of training compared with the last 3 months of training (4.33 ± 0.25 vs 4.81 ± 0.03; p = 0.01; Cohen's d = 0.25) and for procedures where the resident was rated as \"not independent\" versus \"independent\" (4.26 ± 0.13 vs 4.74 ± 0.06; p = 0.006; Cohen's d = 0.13). There was a significant correlation between the number of cataract surgeries performed and the mean total COATS score (Pearson r = 0.20; p = 0.02). Forty-five COATS assessments per resident were required to obtain an overall reliability of 0.70, the accepted threshold for low-stakes assessments.</p><p><strong>Conclusions: </strong>The COATS is a valid tool for the assessment of surgical competence in cataract surgery. There is also evidence that it is a reliable tool when completed multiple times per resident over the course of training.</p>","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145958814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Choroidal vitiligo: systematic review of imaging findings, clinical presentation, and diagnostic considerations. 脉络膜白癜风:影像学表现、临床表现和诊断考虑的系统回顾。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.008
Tala O Radi, Cynthia L Larche, Austin Pereira, Tina Tang, Larissa Derzko-Dzulynsky, Nupura Bakshi, Alexander J Kaplan, Peng Yan

Objective: To synthesize and critically appraise the available evidence on choroidal vitiligo, integrating clinical presentation, multimodal imaging characteristics, and diagnostic differentiation from mimics, while proposing a set of diagnostic criteria based on literature synthesis and authors' expert consensus.

Methods: A systematic search of PubMed, Embase, and Cochrane Reviews through July 2025 identified English-language studies reporting on choroidal vitiligo. Two reviewers independently screened, extracted data, and assessed methodological quality for case reports and case series. Narrative synthesis and descriptive statistics were used to summarize the findings.

Results: Eight studies met inclusion criteria, comprising 16 patients (28 eyes) from 5 countries. The majority of patients (75%) were asymptomatic, middle-aged females, with bilateral involvement in 88% of cases and preserved visual acuity (≥20/25 in 81% of eyes). Multimodal imaging consistently revealed well-demarcated choroidal hypopigmentation with intact retinal architecture and no intraocular inflammation. OCT demonstrated preserved retinal layers with occasional mild choroidal thinning. Fundus autofluorescence often showed scleral hyper-autofluorescence; FA/indocyanine green angiography showed mild window defects without leakage. Cutaneous vitiligo was present in 63% of patients, with no systemic autoimmune disease reported.

Conclusions: Choroidal vitiligo is a rare, benign, and often incidental finding, best recognized through multimodal imaging. This review proposes clinical diagnostic criteria for primary choroidal vitiligo and highlights its key imaging signature to aid differentiation from neoplastic and inflammatory mimics. We recommend baseline multimodal imaging and follow-up at 6-12 months to confirm stability. Standardized imaging criteria and prospective studies are needed to better define prevalence, natural history, and systemic associations. Given that most included studies were single-case reports, the overall level of evidence is low.

目的:综合脉络膜白癜风的临床表现、多模态影像特征、与模拟物的诊断区别,对现有证据进行综合和批判性评价,并在文献综合和作者专家共识的基础上提出一套诊断标准。方法:系统检索PubMed, Embase和Cochrane综述,直到2025年7月确定了关于脉络膜白癜风的英语研究报告。两位审稿人独立筛选、提取数据,并评估病例报告和病例系列的方法学质量。采用叙事综合和描述性统计对研究结果进行总结。结果:8项研究符合纳入标准,包括来自5个国家的16例患者(28只眼)。大多数患者(75%)无症状,中年女性,88%的病例双侧受累,视力保持(81%的眼睛≥20/25)。多模态成像一致显示界限清晰的脉络膜色素沉着,视网膜结构完整,无眼内炎症。OCT显示视网膜层保留,偶有轻度脉络膜变薄。眼底自体荧光常表现为巩膜超自体荧光;FA/吲哚菁绿血管造影显示轻度窗口缺损,无渗漏。63%的患者存在皮肤白癜风,无系统性自身免疫性疾病报道。结论:脉络膜白癜风是一种罕见的、良性的、经常是偶然发现的疾病,最好通过多模式成像来识别。本文综述了原发性脉络膜白癜风的临床诊断标准,并强调了其关键的影像学特征,以帮助区分肿瘤和炎症模拟。我们建议在6-12个月进行基线多模式成像和随访以确认稳定性。需要标准化的影像学标准和前瞻性研究来更好地定义患病率、自然病史和系统性关联。考虑到大多数纳入的研究都是单例报告,总体证据水平很低。
{"title":"Choroidal vitiligo: systematic review of imaging findings, clinical presentation, and diagnostic considerations.","authors":"Tala O Radi, Cynthia L Larche, Austin Pereira, Tina Tang, Larissa Derzko-Dzulynsky, Nupura Bakshi, Alexander J Kaplan, Peng Yan","doi":"10.1016/j.jcjo.2025.12.008","DOIUrl":"10.1016/j.jcjo.2025.12.008","url":null,"abstract":"<p><strong>Objective: </strong>To synthesize and critically appraise the available evidence on choroidal vitiligo, integrating clinical presentation, multimodal imaging characteristics, and diagnostic differentiation from mimics, while proposing a set of diagnostic criteria based on literature synthesis and authors' expert consensus.</p><p><strong>Methods: </strong>A systematic search of PubMed, Embase, and Cochrane Reviews through July 2025 identified English-language studies reporting on choroidal vitiligo. Two reviewers independently screened, extracted data, and assessed methodological quality for case reports and case series. Narrative synthesis and descriptive statistics were used to summarize the findings.</p><p><strong>Results: </strong>Eight studies met inclusion criteria, comprising 16 patients (28 eyes) from 5 countries. The majority of patients (75%) were asymptomatic, middle-aged females, with bilateral involvement in 88% of cases and preserved visual acuity (≥20/25 in 81% of eyes). Multimodal imaging consistently revealed well-demarcated choroidal hypopigmentation with intact retinal architecture and no intraocular inflammation. OCT demonstrated preserved retinal layers with occasional mild choroidal thinning. Fundus autofluorescence often showed scleral hyper-autofluorescence; FA/indocyanine green angiography showed mild window defects without leakage. Cutaneous vitiligo was present in 63% of patients, with no systemic autoimmune disease reported.</p><p><strong>Conclusions: </strong>Choroidal vitiligo is a rare, benign, and often incidental finding, best recognized through multimodal imaging. This review proposes clinical diagnostic criteria for primary choroidal vitiligo and highlights its key imaging signature to aid differentiation from neoplastic and inflammatory mimics. We recommend baseline multimodal imaging and follow-up at 6-12 months to confirm stability. Standardized imaging criteria and prospective studies are needed to better define prevalence, natural history, and systemic associations. Given that most included studies were single-case reports, the overall level of evidence is low.</p>","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145942591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Fingerprint retinal detachment. 指纹视网膜脱离。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.003
Malshi Karunatilake, Eugene Michael, Parampal S Grewal
{"title":"Fingerprint retinal detachment.","authors":"Malshi Karunatilake, Eugene Michael, Parampal S Grewal","doi":"10.1016/j.jcjo.2025.12.003","DOIUrl":"10.1016/j.jcjo.2025.12.003","url":null,"abstract":"","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Trochlear-oculomotor synkinesis: a case series. 滑车-动眼力联动性:一个病例系列。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.006
Mathilde Lamothe, Andrea Dahoud, Weronika Jakubowska, Samir Touma, Luis H Ospina
{"title":"Trochlear-oculomotor synkinesis: a case series.","authors":"Mathilde Lamothe, Andrea Dahoud, Weronika Jakubowska, Samir Touma, Luis H Ospina","doi":"10.1016/j.jcjo.2025.12.006","DOIUrl":"10.1016/j.jcjo.2025.12.006","url":null,"abstract":"","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145849019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
One-year outcomes of an ab externo sibs microshunt in combination with phacoemulsification. 体外微分流术联合超声乳化术的1年疗效观察。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.015
Edward Tran, Ticiana De Francesco, Jingyi Ma, Matthew B Schlenker, Iqbal Ike K Ahmed

Objective: To evaluate the intraocular pressure (IOP)-lowering effect, adverse event profile, and risk factors for failure of an ab externo microshunt combined with phacoemulsification after 1 year of follow-up.

Design: A retrospective, single-center, interventional cohort study.

Participants: One hundred nineteen consecutive glaucomatous eyes of 97 patients with an IOP above target or progressing on maximal medical therapy.

Methods: All eyes underwent ab externo microshunt surgery with mitomycin C in combination with phacoemulsification from July 2015 to June 2019.

Main outcome measures: Primary outcome was complete success, defined as (1) no 2 consecutive IOP readings >17 mm Hg or IOP <6 mm Hg with >2 lines of vision loss, (2) at least 20% IOP reduction from baseline, and (3) on no medications. Secondary outcomes included upper IOP thresholds of 14 mm Hg and 21 mm Hg, qualified success (with medications), change in IOP, medications, visual outcomes, complications, interventions, and reoperations.

Results: At 1-year, complete success was achieved in 67.5% of eyes and qualified success in 79.8%. The median best-corrected vision acuity improved from 0.4 (interquartile range [IQR] 0.2-0.7) at baseline to 0.14 (IQR 0.1-0.3) at 1 year (p < 0.0001), with 93.2% having the same or improved vision. The most common complications were shallow anterior chamber (10.1%), iritis (9.2%), and choroidal detachment (8.4%). Needling was required in 24.4% of the eyes. Reoperation was required in 5.9% of the eyes.

Conclusions: The ab externo SIBS microshunt demonstrates reasonable rates of complete and qualified success at 1 year, decreased IOP and medication use, good visual outcomes, and few reoperations when performed in combination with phacoemulsification.

目的:观察体外微分流联合超声乳化术1年后手术失败的降眼压效果、不良事件及危险因素。设计:回顾性、单中心、干预性队列研究。参与者:眼内压高于目标值或正在接受最大药物治疗的97例连续青光眼患者的119只眼。方法:2015年7月至2019年6月,所有眼行体外微分流手术,应用丝裂霉素C联合超声乳化术。主要结局指标:主要结局是完全成功,定义为(1)没有连续2次IOP读数为17毫米汞柱或IOP 2线视力下降,(2)IOP较基线至少降低20%,(3)未使用药物。次要结局包括IOP上限14mm Hg和21mm Hg,合格的成功(药物治疗),IOP改变,药物治疗,视力结局,并发症,干预和再手术。结果:术后1年,67.5%的眼完全成功,79.8%的眼合格成功。最佳矫正视力中位数从基线时的0.4(四分位间距[IQR] 0.2-0.7)提高到1年后的0.14 (IQR 0.1-0.3) (p < 0.0001),其中93.2%的患者视力相同或改善。最常见的并发症是浅前房(10.1%)、虹膜炎(9.2%)和脉络膜脱离(8.4%)。24.4%的眼睛需要针刺。5.9%的眼睛需要再次手术。结论:体外SIBS微分流术在1年内具有合理的完全和合格的成功率,降低了IOP和药物使用,良好的视力结果,并且与超声乳化术联合使用时很少再手术。
{"title":"One-year outcomes of an ab externo sibs microshunt in combination with phacoemulsification.","authors":"Edward Tran, Ticiana De Francesco, Jingyi Ma, Matthew B Schlenker, Iqbal Ike K Ahmed","doi":"10.1016/j.jcjo.2025.12.015","DOIUrl":"10.1016/j.jcjo.2025.12.015","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the intraocular pressure (IOP)-lowering effect, adverse event profile, and risk factors for failure of an ab externo microshunt combined with phacoemulsification after 1 year of follow-up.</p><p><strong>Design: </strong>A retrospective, single-center, interventional cohort study.</p><p><strong>Participants: </strong>One hundred nineteen consecutive glaucomatous eyes of 97 patients with an IOP above target or progressing on maximal medical therapy.</p><p><strong>Methods: </strong>All eyes underwent ab externo microshunt surgery with mitomycin C in combination with phacoemulsification from July 2015 to June 2019.</p><p><strong>Main outcome measures: </strong>Primary outcome was complete success, defined as (1) no 2 consecutive IOP readings >17 mm Hg or IOP <6 mm Hg with >2 lines of vision loss, (2) at least 20% IOP reduction from baseline, and (3) on no medications. Secondary outcomes included upper IOP thresholds of 14 mm Hg and 21 mm Hg, qualified success (with medications), change in IOP, medications, visual outcomes, complications, interventions, and reoperations.</p><p><strong>Results: </strong>At 1-year, complete success was achieved in 67.5% of eyes and qualified success in 79.8%. The median best-corrected vision acuity improved from 0.4 (interquartile range [IQR] 0.2-0.7) at baseline to 0.14 (IQR 0.1-0.3) at 1 year (p < 0.0001), with 93.2% having the same or improved vision. The most common complications were shallow anterior chamber (10.1%), iritis (9.2%), and choroidal detachment (8.4%). Needling was required in 24.4% of the eyes. Reoperation was required in 5.9% of the eyes.</p><p><strong>Conclusions: </strong>The ab externo SIBS microshunt demonstrates reasonable rates of complete and qualified success at 1 year, decreased IOP and medication use, good visual outcomes, and few reoperations when performed in combination with phacoemulsification.</p>","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145965455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Genotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada. 加拿大西部患者新型RPGR变异的基因型和表型景观。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.016
Cheryl Y Gregory-Evans, Maheshver Shunmugam, Boaz Li, Kevin Gregory-Evans

Objective: To evaluate the breadth of RPGR gene variants in a cohort of Canadian inherited retinal dystrophy patients.

Design: A retrospective cohort analysis.

Participants: We evaluated 54 subjects in Western Canada with an inherited retinal dystrophy diagnosis and confirmed variants in the RPGR gene.

Methods: Clinical information collected included family history, age, sex, and ethnicity. All participants underwent a full ophthalmic examination, wide-field colour fundus photography, fundus autofluorescence imaging, and visual field testing. Pathogenicity of variants was assessed by comparison to genetic databases of disease-causing variants and in silico modelling.

Results: Correlation of genotype with clinical phenotype established a conclusive molecular diagnosis in 34/54 cases (62.9%), with either retinitis pigmentosa (31 cases), cone-rod dystrophy (1 case) or macular dystrophy (2 cases). In the remaining cases, 18 novel RPGR variants were identified comprising 3 nonsense, 5 frameshift, 6 duplications/deletions, 3 missense and 1 splicing variant. Using in silico modelling, 3 novel variants were classified as pathogenic, and 6 were classified as likely pathogenic, increasing the diagnostic rate to 79.6%. Only 3.8% of the cohort were South Asian compared to the local population statistic of 13.5%. Ten of 13 female RPGR carriers were symptomatic and displayed moderate-to-severe phenotypic characteristics.

Conclusions: Through genetic testing, we identified 18 novel RPGR variants, of which 9 were determined to be pathogenic or likely pathogenic. RPGR variants were not a significant cause of retinal dystrophy in South Asians. Female RPGR carriers with visual deficits are likely to be a significant cohort for future RPGR gene therapy trials or treatment modalities.

目的:评价加拿大遗传性视网膜营养不良患者中RPGR基因变异的广度。设计:回顾性队列分析。参与者:我们评估了加拿大西部54名患有遗传性视网膜营养不良诊断和RPGR基因变异的受试者。方法:收集的临床资料包括家族史、年龄、性别和种族。所有参与者都进行了全面的眼科检查、广角彩色眼底摄影、眼底自身荧光成像和视野测试。变异的致病性通过与致病变异的遗传数据库和计算机模拟进行比较来评估。结果:34/54例(62.9%)患者通过基因型与临床表型的相关性确定分子诊断,其中视网膜色素变性(31例)、锥杆营养不良(1例)、黄斑营养不良(2例)。在其余病例中,鉴定出18个新的RPGR变异,包括3个无义变异,5个移码变异,6个重复/缺失变异,3个错义变异和1个剪接变异。利用计算机模拟,3个新变异被归类为致病变异,6个被归类为可能致病变异,将诊断率提高到79.6%。该队列中只有3.8%是南亚人,而当地人口统计数据为13.5%。13名女性RPGR携带者中有10名有症状,表现出中重度表型特征。结论:通过基因检测,我们鉴定出18种新的RPGR变异,其中9种被确定为致病性或可能致病性。在南亚,RPGR变异并不是视网膜营养不良的重要原因。具有视觉缺陷的女性RPGR携带者可能是未来RPGR基因治疗试验或治疗方式的重要群体。
{"title":"Genotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada.","authors":"Cheryl Y Gregory-Evans, Maheshver Shunmugam, Boaz Li, Kevin Gregory-Evans","doi":"10.1016/j.jcjo.2025.12.016","DOIUrl":"10.1016/j.jcjo.2025.12.016","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the breadth of RPGR gene variants in a cohort of Canadian inherited retinal dystrophy patients.</p><p><strong>Design: </strong>A retrospective cohort analysis.</p><p><strong>Participants: </strong>We evaluated 54 subjects in Western Canada with an inherited retinal dystrophy diagnosis and confirmed variants in the RPGR gene.</p><p><strong>Methods: </strong>Clinical information collected included family history, age, sex, and ethnicity. All participants underwent a full ophthalmic examination, wide-field colour fundus photography, fundus autofluorescence imaging, and visual field testing. Pathogenicity of variants was assessed by comparison to genetic databases of disease-causing variants and in silico modelling.</p><p><strong>Results: </strong>Correlation of genotype with clinical phenotype established a conclusive molecular diagnosis in 34/54 cases (62.9%), with either retinitis pigmentosa (31 cases), cone-rod dystrophy (1 case) or macular dystrophy (2 cases). In the remaining cases, 18 novel RPGR variants were identified comprising 3 nonsense, 5 frameshift, 6 duplications/deletions, 3 missense and 1 splicing variant. Using in silico modelling, 3 novel variants were classified as pathogenic, and 6 were classified as likely pathogenic, increasing the diagnostic rate to 79.6%. Only 3.8% of the cohort were South Asian compared to the local population statistic of 13.5%. Ten of 13 female RPGR carriers were symptomatic and displayed moderate-to-severe phenotypic characteristics.</p><p><strong>Conclusions: </strong>Through genetic testing, we identified 18 novel RPGR variants, of which 9 were determined to be pathogenic or likely pathogenic. RPGR variants were not a significant cause of retinal dystrophy in South Asians. Female RPGR carriers with visual deficits are likely to be a significant cohort for future RPGR gene therapy trials or treatment modalities.</p>","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145988486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Accessing ophthalmology care for rural Canadians: case study on CRAO and NVG with a focus on rural and Indigenous populations. 获得加拿大农村地区的眼科护理:以农村和土著人口为重点的CRAO和NVG案例研究。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.022
Paige Campbell, Ojas Srivastava, Tony Chae, David Ehmann, Mathew M Palakkamanil, Rehan Riyaz
{"title":"Accessing ophthalmology care for rural Canadians: case study on CRAO and NVG with a focus on rural and Indigenous populations.","authors":"Paige Campbell, Ojas Srivastava, Tony Chae, David Ehmann, Mathew M Palakkamanil, Rehan Riyaz","doi":"10.1016/j.jcjo.2025.12.022","DOIUrl":"10.1016/j.jcjo.2025.12.022","url":null,"abstract":"","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Response to anti-VEGF therapy in patients with retinal astrocytic hamartoma associated macular edema: a case series. 视网膜星形细胞错构瘤相关性黄斑水肿患者对抗vegf治疗的反应:一个病例系列。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.007
Amy Shteyman, Julie Shabto, Erin Flynn, Vlad Diaconita, Brian Marr
{"title":"Response to anti-VEGF therapy in patients with retinal astrocytic hamartoma associated macular edema: a case series.","authors":"Amy Shteyman, Julie Shabto, Erin Flynn, Vlad Diaconita, Brian Marr","doi":"10.1016/j.jcjo.2025.12.007","DOIUrl":"10.1016/j.jcjo.2025.12.007","url":null,"abstract":"","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Mapping pediatric eye care deserts in Canada: a national geospatial analysis of clinician density, travel burden, and socio-economic inequity. 绘制加拿大儿童眼科护理沙漠:临床医生密度、旅行负担和社会经济不平等的国家地理空间分析。
IF 2.8 4区 医学 Q1 OPHTHALMOLOGY Pub Date : 2026-02-02 DOI: 10.1016/j.jcjo.2025.12.009
Aljeena Rahat Qureshi, Afreen Ahmad, Jacqueline L Slomovic, Yasmin Meghdadi, Alisha Sharma, Mohammed L H Kutty, Michael J Wan, Michael T B Nguyen

Objective: To quantify the pediatric ophthalmology workforce density, travel burden, and socioeconomic inequities across all 293 Canadian census divisions (CDs).

Design: Cross-sectional geospatial study.

Participants: A national database of practicing pediatric ophthalmologists in Canada (95 clinicians, 102 sites) and the 2021 Census counts of residents <18 years and median after-tax household income for all CDs.

Methods: For each CD, we calculated providers per 100,000 children, the straight-line distance to the nearest pediatric ophthalmology practice, and the 30- and 60-minute travel-time access. We defined 2 measures of underservice: (1) provider-absence desert, which is a CD with 0 resident pediatric ophthalmologists; and (2) travel-access desert, which is a CD lying outside a 30-minute drive-time catchment.

Results: The unweighted mean provider rate was 0.47 ± 3.82 per 100,000 children. 269 CDs (91.8%) had no resident pediatric ophthalmologist (provider-absence deserts). Separately, drive-time modeling showed that 215/293 CDs (73.4%) and 4,178,025 (41.4%) children lay entirely outside a 30-minute road network catchment (travel-access deserts). The median straight-line distance to the nearest clinic was 124.1 km (interquartile range: 57-251). Seventy-four CDs (25.3%) were ≥250 km away. Access worsened with lower income and greater rurality: the lowest-income quintile had 86.9% of children living beyond 30 minutes, versus 16.2% in the highest-income quintile.

Conclusions: Timely treatment of childhood eye diseases hinges on geographic access to pediatric eye-care clinicians, yet 2 in 5 Canadian children live over 30 minutes from pediatric ophthalmologists, and 90% of CDs have no resident pediatric ophthalmologist at all. These provider-absence and travel-access deserts cluster in the lowest-income and most rural regions, signalling an urgent equity gap.

目的:量化加拿大所有293个人口普查区(cd)的儿科眼科劳动力密度、旅行负担和社会经济不平等。设计:横断面地理空间研究。参与者:加拿大执业儿科眼科医生的国家数据库(95名临床医生,102个站点)和2021年居民普查计数方法:对于每张CD,我们计算每10万名儿童的提供者,到最近的儿科眼科诊所的直线距离,以及30和60分钟的开车时间。我们定义了两种服务不足的衡量标准:(1)提供者缺席沙漠,即没有住院儿科眼科医生的CD;(2)旅行通道沙漠,这是一张CD,放在30分钟车程的集水区外面。结果:未加权平均提供者率为0.47±3.82 / 10万。269例(91.8%)没有住院儿科眼科医生(医生缺席沙漠)。另外,驾驶时间模型显示215/293名儿童(73.4%)和4178025名儿童(41.4%)完全不在30分钟的公路网集水范围内(旅行通道沙漠)。到最近诊所的直线距离中位数为124.1 km(四分位数间距:57-251)。74个cd(25.3%)距离≥250 km。随着收入的降低和农村化程度的提高,儿童获得医疗服务的机会越来越少:最低收入的五分之一家庭中有86.9%的儿童生活时间超过30分钟,而最高收入的五分之一家庭中有16.2%的儿童生活时间超过30分钟。结论:儿童眼病的及时治疗取决于儿童眼科医生的地理位置,然而五分之二的加拿大儿童与儿童眼科医生的距离超过30分钟,90%的cd根本没有儿科眼科医生。这些缺乏医疗服务提供者和旅行通道的沙漠集中在最低收入和大多数农村地区,表明存在紧迫的公平差距。
{"title":"Mapping pediatric eye care deserts in Canada: a national geospatial analysis of clinician density, travel burden, and socio-economic inequity.","authors":"Aljeena Rahat Qureshi, Afreen Ahmad, Jacqueline L Slomovic, Yasmin Meghdadi, Alisha Sharma, Mohammed L H Kutty, Michael J Wan, Michael T B Nguyen","doi":"10.1016/j.jcjo.2025.12.009","DOIUrl":"10.1016/j.jcjo.2025.12.009","url":null,"abstract":"<p><strong>Objective: </strong>To quantify the pediatric ophthalmology workforce density, travel burden, and socioeconomic inequities across all 293 Canadian census divisions (CDs).</p><p><strong>Design: </strong>Cross-sectional geospatial study.</p><p><strong>Participants: </strong>A national database of practicing pediatric ophthalmologists in Canada (95 clinicians, 102 sites) and the 2021 Census counts of residents <18 years and median after-tax household income for all CDs.</p><p><strong>Methods: </strong>For each CD, we calculated providers per 100,000 children, the straight-line distance to the nearest pediatric ophthalmology practice, and the 30- and 60-minute travel-time access. We defined 2 measures of underservice: (1) provider-absence desert, which is a CD with 0 resident pediatric ophthalmologists; and (2) travel-access desert, which is a CD lying outside a 30-minute drive-time catchment.</p><p><strong>Results: </strong>The unweighted mean provider rate was 0.47 ± 3.82 per 100,000 children. 269 CDs (91.8%) had no resident pediatric ophthalmologist (provider-absence deserts). Separately, drive-time modeling showed that 215/293 CDs (73.4%) and 4,178,025 (41.4%) children lay entirely outside a 30-minute road network catchment (travel-access deserts). The median straight-line distance to the nearest clinic was 124.1 km (interquartile range: 57-251). Seventy-four CDs (25.3%) were ≥250 km away. Access worsened with lower income and greater rurality: the lowest-income quintile had 86.9% of children living beyond 30 minutes, versus 16.2% in the highest-income quintile.</p><p><strong>Conclusions: </strong>Timely treatment of childhood eye diseases hinges on geographic access to pediatric eye-care clinicians, yet 2 in 5 Canadian children live over 30 minutes from pediatric ophthalmologists, and 90% of CDs have no resident pediatric ophthalmologist at all. These provider-absence and travel-access deserts cluster in the lowest-income and most rural regions, signalling an urgent equity gap.</p>","PeriodicalId":9606,"journal":{"name":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145896067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
期刊
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1