British Journal of Ophthalmology最新文献_第10页

Shaping school for childhood myopia: the association between floor area ratio of school environment and myopia in China. 塑造儿童近视学校：中国学校环境容积率与近视之间的关系。

IF 3.7 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-17 DOI: 10.1136/bjo-2024-325448

Danqi Zeng, Yahan Yang, Yang Tang, Lanqin Zhao, Xun Wang, Dongyuan Yun, Wenben Chen, Yuanjun Shang, Andi Xu, Huipeng Liao, Xingying Zhang, Duoru Lin, Haotian Lin

{"title":"Shaping school for childhood myopia: the association between floor area ratio of school environment and myopia in China.","authors":"Danqi Zeng, Yahan Yang, Yang Tang, Lanqin Zhao, Xun Wang, Dongyuan Yun, Wenben Chen, Yuanjun Shang, Andi Xu, Huipeng Liao, Xingying Zhang, Duoru Lin, Haotian Lin","doi":"10.1136/bjo-2024-325448","DOIUrl":"10.1136/bjo-2024-325448","url":null,"abstract":"Aim: To investigate the association of floor area ratio (FAR), an indicator of built environments, and myopia onset.Methods: This prospective cohort study recruited 136 753 children aged 6-10 years from 108 schools in Shenzhen, China at baseline (2016-2017). Refractive power was measured with non-cycloplegic autorefraction over a 2-year follow-up period. FAR was objectively evaluated using geographical information system technology. Mixed-effects logistic regression models were constructed to examine the association of FAR with a 2-year cumulative incidence of myopia among individuals without baseline myopia; multiple linear regression model, with a 2-year cumulative incidence rate of myopia at each school.Results: Of 101 624 non-myopic children (56.3% boys; mean (SE) age, 7.657±1.182 years) included in the study, 26 391 (26.0%) of them developed myopia after 2 years. In the individual-level analysis adjusting for demographic, socioeconomic and greenness factors, an IQR in FAR was associated with a decreased risk of 2-year myopia incidence (OR 0.898, 95% CI 0.866 to 0.932, p<0.001). Similar findings were observed in the analysis additionally adjusted for genetic and behavioural factors (OR 0.821, 95% CI 0.766 to 0.880, p<0.001). In the school-level, an IQR increase in FAR was found to be associated with a 2.0% reduction in the 2-year incidence rate of myopia (95% CI 1.3% to 2.6%, p<0.001).Conclusions: Exposure to higher FAR was associated with a decreased myopia incidence, providing insights into myopia prevention through school built environments in China.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":"146-151"},"PeriodicalIF":3.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11672007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490903","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}

引用次数: 0

Foveal atrophy in patients with active central serous chorioretinopathy at first presentation: characteristics and treatment outcomes. 活动性中央浆液性脉络膜视网膜病变患者首次发病时的眼窝萎缩：特征和治疗效果。

IF 3.7 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-17 DOI: 10.1136/bjo-2023-324147

Ki Young Son, Seul Gi Lim, Sungsoon Hwang, Jaehwan Choi, Sang Jin Kim, Se Woong Kang

{"title":"Foveal atrophy in patients with active central serous chorioretinopathy at first presentation: characteristics and treatment outcomes.","authors":"Ki Young Son, Seul Gi Lim, Sungsoon Hwang, Jaehwan Choi, Sang Jin Kim, Se Woong Kang","doi":"10.1136/bjo-2023-324147","DOIUrl":"10.1136/bjo-2023-324147","url":null,"abstract":"Background/aims: This study aimed to investigate the clinical characteristics and treatment outcomes of patients with active central serous chorioretinopathy (CSC) and foveal atrophy.Methods: Patients diagnosed with active idiopathic CSC using multimodal imaging and followed up for at least 6 months were included. They were divided into two groups (foveal atrophy group vs foveal non-atrophy group) according to a cut-off central foveal thickness of 120 µm on baseline optical coherence tomography (OCT). Baseline characteristics, angiographic and tomographic features and treatment outcomes were compared between the two groups.Results: Of the 463 patients, 92 eyes of 92 patients (19.9%) were in the foveal atrophy group and 371 eyes of 371 patients (80.1%) were in the foveal non-atrophy group. The baseline subretinal fluid (SRF) height was 111.3±76.8 µm in the foveal atrophy group and 205.0±104.4 µm in the foveal non-atrophy group on OCT images (p<0.001). Complete resolution of SRF after treatment was noted in 60.4% and 93.5% of patients in the foveal atrophy and foveal non-atrophy groups at the final visit, respectively (p<0.001). The foveal atrophy group showed worse visual acuity at baseline (logarithm of the minimum angle of resolution, 0.43±0.33 vs 0.13±0.18, p<0.001) and final visit (0.41±0.32 vs 0.05±0.15, p=0.035).Conclusions: CSC with foveal atrophy was associated with a shallow SRF height, low treatment efficacy and poor vision before and after treatment. We suggest that early active treatment should be considered for eyes with CSC accompanied by a persistent shallow SRF and foveal atrophy.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":"89-97"},"PeriodicalIF":3.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141092851","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

Sonographic bleb visualisation after PAUL glaucoma implant surgery PAUL 青光眼植入手术后的声波眼泡成像

IF 4.1 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-16 DOI: 10.1136/bjo-2024-326168

Constance Weber, Leonie Weinhold, Wolfgang Walz, Michael Petrak, Frank G Holz, Raffael Liegl, Karl Mercieca

{"title":"Sonographic bleb visualisation after PAUL glaucoma implant surgery","authors":"Constance Weber, Leonie Weinhold, Wolfgang Walz, Michael Petrak, Frank G Holz, Raffael Liegl, Karl Mercieca","doi":"10.1136/bjo-2024-326168","DOIUrl":"https://doi.org/10.1136/bjo-2024-326168","url":null,"abstract":"Background/aims Bleb characteristics in the area around the plate following glaucoma drainage device (GDD) surgery are difficult to evaluate on slit lamp examination. Ultrasound sonography could be used for more detailed visualisation. The aim of this study was to describe bleb configuration after PAUL glaucoma implant (PGI) surgery and evaluate the possible correlation with intraocular pressure (IOP) in order to derive new markers for evaluating GDD function. Methods Patients underwent a 15 MHz ultrasound examination (Compact Touch, Quantel Medical) after undergoing PGI implantation. The filtering bleb dimensions were measured and bleb configuration was assessed along with documentation of all clinical data. Results A total of 70 eyes from 65 patients were included. 55 eyes (78.6%) had a double-layered bleb whereas 15 eyes (21.4%) had a bleb with only one compartment (six eyes, 8.6% above; nine eyes, 12.9% below the plate). The total height of both compartments averaged 3.52 mm. The average IOP was 13.03 mm Hg. There was a significant correlation between single and double-layered blebs (p<0.01) with regard to IOP (one compartment: 16.47 mm Hg vs two compartments: 12.09 mm Hg). There was no significant correlation between total bleb height (p=0.143) or bleb extension (T: p=0.629; L: p=0.742). However, total bleb height showed an inverse association with IOP. Blebs with a height >2 mm had significantly lower mean IOP than those having <2 mm bleb heights (p=0.041). Conclusions Sonography is a suitable modality to evaluate bleb characteristics after PGI implantation. Blebs with a double fluid layer are significantly correlated with lower IOP values. Bleb height has an inverse association with IOP, with higher blebs (>2 mm) showing a significantly lower IOP. Data are available upon reasonable request. All datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"16 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142832083","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

Inferior rectus muscle detachment during strabismus surgery has a major effect on anterior segment perfusion, as shown by LSCI perfusion monitoring. 斜视手术中下直肌脱离对前段灌注有重要影响，LSCI灌注监测显示。

IF 3.7 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-12 DOI: 10.1136/bjo-2024-325916

Linn Engqvist, HannaMaria Öhnell, Ella Nygren, Aboma Merdasa, Rafi Sheikh, Ulf Dahlstrand, Malin Malmsjö

{"title":"Inferior rectus muscle detachment during strabismus surgery has a major effect on anterior segment perfusion, as shown by LSCI perfusion monitoring.","authors":"Linn Engqvist, HannaMaria Öhnell, Ella Nygren, Aboma Merdasa, Rafi Sheikh, Ulf Dahlstrand, Malin Malmsjö","doi":"10.1136/bjo-2024-325916","DOIUrl":"10.1136/bjo-2024-325916","url":null,"abstract":"Background: Anterior segment ischaemia (ASI) is a rare but feared complication associated with strabismus surgery, arising from damage of the anterior ciliary arteries that run along the extraocular rectus muscles. It has been reported that the risk of ASI following strabismus surgery increases when the vertical rectus muscles are involved. The aim of the present study was to monitor anterior segment perfusion in real time during inferior rectus muscle surgery.Methods: 17 eyes in 16 patients undergoing surgery on the inferior rectus muscle were included. Perfusion was measured in the adjacent paralimbal and iris tissue, before and after inferior rectus muscle detachment, using laser speckle contrast imaging.Results: The paralimbal vascular network was clearly visualised in the perfusion images, whereas the signals from the iris were lower. Detachment of the inferior rectus muscle resulted in a reduction in paralimbal and iris perfusion by a median of 33% (p<0.0001) and 11% (p=0.0174), respectively.Conclusion: Strabismus surgery involving the inferior rectus muscle significantly affects perfusion to the anterior segment, and to a greater extent than previously observed following surgery on horizontal rectus muscles (where the decrease was only 23% and 5%).","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817374","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

Number of macula optical coherence tomography scans needed to detect glaucoma progression 检测青光眼进展所需的黄斑光学相干断层扫描次数

IF 4.1 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-11 DOI: 10.1136/bjo-2023-324916

Golnoush Mahmoudinezhad, Sasan Moghimi, Kareem Latif, Nicole Brye, Evan Walker, Takashi Nishida, Kelvin H Du, Gopikasree Gunasegaran, Jo-Hsuan Wu, Jeffrey M Liebmann, Massimo A Fazio, Christopher A Girkin, Linda M Zangwill, Robert N Weinreb

{"title":"Number of macula optical coherence tomography scans needed to detect glaucoma progression","authors":"Golnoush Mahmoudinezhad, Sasan Moghimi, Kareem Latif, Nicole Brye, Evan Walker, Takashi Nishida, Kelvin H Du, Gopikasree Gunasegaran, Jo-Hsuan Wu, Jeffrey M Liebmann, Massimo A Fazio, Christopher A Girkin, Linda M Zangwill, Robert N Weinreb","doi":"10.1136/bjo-2023-324916","DOIUrl":"https://doi.org/10.1136/bjo-2023-324916","url":null,"abstract":"Background To evaluate the impact of testing frequency on the time required to detect statistically significant glaucoma progression for ganglion cell complex (GCC) with optical coherence tomography (OCT). Materials and methods From multicentre glaucoma registries, 332 eyes of 201 glaucoma patients were enrolled over an average of 4.4 years. Patients with 4 or more OCT tests were selected to calculate the longitudinal rates of GCC thickness change over time by linear regression. A computer simulation was then used to generate real-world GCC data and assess the time required to detect progression at different loss rates and testing frequencies based on variability estimates. Time and accuracy to detect worsening of progression were calculated. Results As testing frequency increased, the time required to detect a statistically significant negative GCC slope decreased, but not proportionally. All eyes with a GCC loss of −1 µm/year progressed after 3.8, 2.6 and 2.2 years on average when testing was conducted one, two and three times per year, respectively. For eyes with a GCC loss of −1.5 µm/year, progression was identified after 3.3, 2.2, and 1.8 years on average, respectively. Conclusion Increasing the frequency of macular OCT testing to three times per year more sensitively detects progression compared with two times per year. However, two times per year testing may be sufficient in clinical settings to detect progression and also to reduce the healthcare burden. Trial registration numbers [NCT00221897][1], [NCT00221923][2]. Data are available upon reasonable request. [1]: /lookup/external-ref?link_type=CLINTRIALGOV&access_num=NCT00221897&atom=%2Fbjophthalmol%2Fearly%2F2024%2F12%2F11%2Fbjo-2023-324916.atom [2]: /lookup/external-ref?link_type=CLINTRIALGOV&access_num=NCT00221923&atom=%2Fbjophthalmol%2Fearly%2F2024%2F12%2F11%2Fbjo-2023-324916.atom","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"38 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142809321","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

Social determinants of health as risk factors for keratoconus in the All of Us database. 全民数据库中健康的社会决定因素作为圆锥角膜的危险因素。

IF 3.7 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-10 DOI: 10.1136/bjo-2024-326229

Caleb Tan, Allan I Puran, Ahmad Santina, Fei Yu, Ken Kitayama, Victoria L Tseng, Anne L Coleman

{"title":"Social determinants of health as risk factors for keratoconus in the All of Us database.","authors":"Caleb Tan, Allan I Puran, Ahmad Santina, Fei Yu, Ken Kitayama, Victoria L Tseng, Anne L Coleman","doi":"10.1136/bjo-2024-326229","DOIUrl":"10.1136/bjo-2024-326229","url":null,"abstract":"Background/aims: Clinical risk factors for keratoconus (KCN) have previously been established. While the impact of the social determinants of health on the epidemiology and pathophysiology of KCN has been explored, further study of these associations is needed in large and diverse populations. This cross-sectional study determines how education level and income impact the prevalence of KCN in the USA using the National Institutes of Health 'All of Us' database.Methods: Exposures included the highest level of education and annual household income. Multivariable logistic regression was used to examine the odds of KCN diagnosis at different levels of education and income, adjusting for sex assigned at birth, race, ethnicity, age, atopic conditions and eyecare access.Results: The overall prevalence of KCN was 0.17% (429/255 334). In multivariable logistic regression, individuals with more than a high school education had a greater risk of having KCN than those with less than a high school equivalent (college 1-3 years: adjusted OR (aOR): 1.96; 95% CI 1.46 to 2.65; college graduate or advanced degree: aOR:2.19; 95% CI 1.61 to 3.00). There were no significant associations between income level and odds of keratoconus.Conclusion: In the study population, higher education level was associated with an increased likelihood of keratoconus, while no correlation was seen between income and KCN prevalence. After adjusting for access to eye care in a secondary analysis, there was an association between increased education level and increased prevalence of KCN. Further studies are needed to fully understand the mechanism of this finding such as increased levels of dry eye secondary to computer vision syndrome in highly educated people.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806460","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

Comparison of clinical outcomes between different combinations of hybrid multifocal, extended-depth-of-focus and enhanced monofocal intraocular lenses. 混合多焦、扩大焦深和增强单焦人工晶状体不同组合的临床效果比较。

IF 3.7 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-10 DOI: 10.1136/bjo-2024-325181

Bokyung Kim, Hyeck-Soo Son, Ramin Khoramnia, Gerd U Auffarth, Chul Young Choi

{"title":"Comparison of clinical outcomes between different combinations of hybrid multifocal, extended-depth-of-focus and enhanced monofocal intraocular lenses.","authors":"Bokyung Kim, Hyeck-Soo Son, Ramin Khoramnia, Gerd U Auffarth, Chul Young Choi","doi":"10.1136/bjo-2024-325181","DOIUrl":"10.1136/bjo-2024-325181","url":null,"abstract":"Purpose: To compare clinical outcomes of bilateral implantation of hybrid multifocal intraocular lenses (IOLs) versus mix-and-match implantation of hybrid multifocal and extended-depth-of-focus (EDOF) versus mix-and-match implantation of hybrid multifocal and enhanced monofocal IOLs.Methods: Patients with bilateral age-related cataract were randomised in one of three groups: group 1, bilateral hybrid multifocal IOL; group 2, EDOF in the dominant eye, hybrid multifocal in the non-dominant eye; group 3, enhanced monofocal in the dominant eye, hybrid multifocal in the non-dominant eye. Assessments at 6 months postoperatively included monocular and binocular uncorrected distance visual acuity (UDVA), intermediate (UIVA) and near distance (UNVA) at 40 and 33 cm, defocus curves, contrast sensitivity (CS), reading speed and questionnaires on quality of vision and dysphotopsia.Results: 75 patients (25 per group) were enrolled. There were no statistically significant differences in binocular UDVA and UNVA between groups (p>0.05); binocular UIVA was better for group 1 and 2 versus group 3 (p=0.030). Binocular uncorrected defocus curve showed better performance for group 1 compared with group 3 from -2.00 to -3.50 D. Significantly higher reading speed was measured for Jaeger 1 font in group 1. There were no differences in CS between groups, but higher incidence of starbursts in group 1 and higher need for near spectacles in group 3.Conclusion: Bilateral hybrid multifocal IOL implantation resulted in better near vision, but higher rates of photic phenomena compared with the mix-and-match groups. Combinations of IOLs may allow surgeons to fine-tune for individual patient's needs.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806457","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

Outcomes of staged conjunctival flap and corneal transplantation for infectious keratitis resistant to medical treatment 分期结膜瓣联合角膜移植治疗耐药感染性角膜炎的疗效观察

IF 4.1 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-06 DOI: 10.1136/bjo-2024-326225

Raphael Kilian, Marco Pellegrini, Angeli Christy Yu, Valentino de Ruvo, Niccolò Salgari, Massimo Busin

{"title":"Outcomes of staged conjunctival flap and corneal transplantation for infectious keratitis resistant to medical treatment","authors":"Raphael Kilian, Marco Pellegrini, Angeli Christy Yu, Valentino de Ruvo, Niccolò Salgari, Massimo Busin","doi":"10.1136/bjo-2024-326225","DOIUrl":"https://doi.org/10.1136/bjo-2024-326225","url":null,"abstract":"Background/Aims To explore the outcomes of conjunctival flap (CF) followed by keratoplasty in patients with severe infectious keratitis (IK) unresponsive to medical treatment. Methods This is a retrospective monocentric study including 29 eyes of 29 patients with IK resistant to antibiotic treatment associated with stromal ulcer deepening to ≥50% of corneal thickness. All eyes underwent Gundersen’s CF procedure and penetrating keratoplasty (PK), deep anterior lamellar keratoplasty (DALK) or mushroom keratoplasty (MK), at least 4 months thereafter. Outcome measures included corrected distance visual acuity (CDVA), endothelial cell count (ECC), graft survival and complications. Results IK healed in all eyes following CF. The mean time interval between CF and keratoplasty was 16.3±16.1 months. 55% of patients underwent PK, 35% MK and 10% DALK. Mean follow-up duration was 39.6±34.3 months. At the last available follow-up, a CDVA≥20/200 was obtained in 50%, 33.3% and 70% of cases, respectively after PK, DALK and MK. Mean annual endothelial cell loss was 24.5% following PK and 10.7% following MK. Overall, graft failure occurred in 75% of cases after PK, 100% after DALK and 20% after MK. The most frequent complications were endothelial decompensation without immunological rejection (34.5%, after 31.1±25.1 months) and graft rejection (17.2%, after 10.2±7.9 months, all in the PK group). Conclusion CF surgery followed by staged keratoplasty represents an alternative therapeutic approach to avoid high-risk keratoplasty ‘a chaud’ in cases of severe IK. Data are available upon reasonable request. Data are available on reasonable request.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"27 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142788401","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

Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic clinicians 全基因组关联研究，多基因风险评分和孟德尔随机化：眼科临床医生常见遗传流行病学方法概述

IF 4.1 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-02 DOI: 10.1136/bjo-2024-326554

Samantha Sze-Yee Lee, Fiona Stapleton, Stuart MacGregor, David A Mackey

{"title":"Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic clinicians","authors":"Samantha Sze-Yee Lee, Fiona Stapleton, Stuart MacGregor, David A Mackey","doi":"10.1136/bjo-2024-326554","DOIUrl":"https://doi.org/10.1136/bjo-2024-326554","url":null,"abstract":"Genetic information will be increasingly integrated into clinical eye care within the current generation of ophthalmologists. For monogenic diseases such as retinoblastoma, genetic studies have been relatively straightforward as these conditions result from pathogenic variants in a single gene resulting in large physiological effects. However, most eye diseases result from the cumulative effects of multiple genetic variants and environmental factors. In such diseases, because each variant usually has an individually small effect, genetic studies for complex diseases are comparatively more challenging. This article aims to provide an overview of three genetic epidemiology methods for polygenic (or complex) diseases: genome-wide association studies (GWAS), Polygenic Risk Scores (PRS) and Mendelian randomisation (MR). A GWAS systematically conducts association analyses of a trait of interest against millions of genetic variants, usually in the form of single nucleotide polymorphisms, across the genome. GWAS findings can then be used for PRS construction and MR analyses. To construct a PRS, the cumulative effect of many genetic variants associated with a trait from a prior GWAS is calculated and taken as a quantitative representation of an individual’s genetic risk of a complex disease. MR studies analyse an outcome measure against the genetic variants of an exposure, and are particularly useful in investigating causal relations between two traits where randomised controlled trials are not possible or ethical. In addition to explaining the principles of these three genetic epidemiology concepts, this article provides a minimally technical description of their basic methodology that is accessible to the non-expert reader. No data are available.","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":"8 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142760059","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

Highlights from this issue 本期亮点

IF 4.1 2区医学

British Journal of Ophthalmology Pub Date : 2024-12-01 DOI: 10.1136/bjo-2024-326751

Frank Larkin

引用次数: 0