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Randomized controlled trial on corneal denervation, neuroinflammation and ocular surface in corneal lenticule extraction for advanced refractive correction (CLEAR) and small incision lenticule extraction (SMILE). 高级屈光矫正(CLEAR)和小切口角膜晶状体摘除术(SMILE)中角膜去神经支配、神经炎症和眼表的随机对照试验。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-04-01 DOI: 10.1186/s40662-025-00429-1
Mingyi Yu, Chang Liu, Isabelle Xin Yu Lee, Victor Wei-Tse Hsu, Regina Kay Ting Wong, Ansa Anam, Rong Lim, Jodhbir S Mehta, Yu-Chi Liu

Background: To investigate and compare the corneal denervation, tear neuromediators, and ocular surface changes following corneal lenticule extraction for advanced refractive correction (CLEAR) versus small incision lenticule extraction (SMILE).

Methods: In this randomized clinical trial, 19 patients were randomized to undergo CLEAR in one eye and SMILE in the other eye. Ocular surface assessments, in vivo confocal microscopy for seven corneal nerve parameters, four corneal dendritic cell parameters, three corneal epithelial parameters, and tear neuromediator analysis were performed preoperatively and 1, 3, 6 and 12 months postoperatively.

Results: There were no significant differences in all ocular surface assessments between CLEAR and SMILE throughout postoperative 1 year. CLEAR and SMILE led to significant and comparable reductions of corneal nerve fiber density (CNFD), nerve branch density, total branch density, nerve fiber length, area, and fiber fractal dimension, which did not restore even at 1 year. The reduction in CNFD was significantly correlated with the corrected spherical equivalent in both surgical types. Although post-SMILE eyes had significantly higher nerve growth factor concentrations at 1 month, there was no significant difference in substance P and calcitonin gene-related peptide (CGRP) concentrations between SMILE and CLEAR.

Conclusions: CLEAR and SMILE had comparable effects on ocular surface, corneal denervation and postoperative neuroinflammation. Corneal nerve metrics did not restore even at 1 year for both procedures.

Trial registration number: ClinicalTrials.gov NCT06774651, registration on 14 January 2025, https://clinicaltrials.gov/study/NCT06774651 .

背景:研究和比较先进屈光矫正(CLEAR)和小切口晶状体摘除(SMILE)后角膜去神经控制、撕裂神经介质和眼表的变化。方法:在本随机临床试验中,19例患者随机接受一只眼CLEAR和另一只眼SMILE。术前、术后1、3、6、12个月分别进行眼表评估、角膜7个神经参数、4个角膜树突状细胞参数、3个角膜上皮参数的体内共聚焦显微镜检查和泪液神经介质分析。结果:术后1年内,CLEAR和SMILE的所有眼表评估均无显著差异。CLEAR和SMILE可显著降低角膜神经纤维密度(CNFD)、神经分支密度、总分支密度、神经纤维长度、面积和纤维分形维数,即使在1年后也没有恢复。在两种手术类型中,CNFD的减少与校正的球形当量显著相关。尽管术后1个月时,SMILE组的神经生长因子浓度明显升高,但在P物质和降钙素基因相关肽(CGRP)浓度方面,SMILE组与CLEAR组无显著差异。结论:CLEAR和SMILE在眼表、角膜去神经支配和术后神经炎症方面具有相当的效果。两种手术的角膜神经指标在1年后也没有恢复。试验注册号:ClinicalTrials.gov NCT06774651,注册日期为2025年1月14日,网址:https://clinicaltrials.gov/study/NCT06774651。
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引用次数: 0
Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study. RetNet基因多态性与角膜塑形术控制近视疗效之间的关系:一项回顾性临床研究。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-03-17 DOI: 10.1186/s40662-025-00426-4
Ruijing Xia, Xiangyi Yu, Hao Wu, Lulu Peng, Zhenlin Du, Xiaoguang Yu, Shilai Xing, Fan Lu, Xinjie Mao

Background: This study investigated how clinical and genetic factors impact the effectiveness of orthokeratology lenses in myopia.

Methods: A retrospective clinical study was conducted with a sample of 545 children aged 8-12 years who had myopia and have initially worn orthokeratology lenses for one year. Whole-genome sequencing (WGS) was also performed on 60 participants in two groups, one with rapid axial length (AL) progression of larger than 0.33 mm and the other with slow AL progression of less than 0.09 mm. The RetNet database was used to screen candidate genes that may contribute to the effectiveness of orthokeratology lenses in controlling myopia.

Results: Children with greater baseline AL, greater spherical equivalent (SE) and greater age had better myopia control with orthokeratology lenses. A significant excess of nonsynonymous variants was observed among those with slow myopia progression, and these were prominently enriched in retinal disease-related genes. Subsequently, RIMS2 [odds ratio (OR) = 0.01, P = 0.0097] and LCA5 (OR = 9.27, P = 0.0089) were found to harbor an excess number of nonsynonymous variants in patients with slow progression of high myopia. Two intronic common variants rs36006402 in SLC7A14 and rs2285814 in CLUAP1 were strongly associated with AL growth. The identification of these novel genes associated with the effectiveness of orthokeratology lens therapy in myopic children provides insight into the genetic mechanism of orthokeratology treatment.

Conclusion: The effectiveness of orthokeratology lens treatment relates to interindividual variability in the control of AL growth in myopic eyes. The efficacy increased when patients carried more nonsynonymous variants in retinal disease-related gene sets. These data serve as reference for genetic counselling and the management of patients who choose orthokeratology lenses to control myopia.

背景:本研究探讨了临床和遗传因素对角膜塑形镜治疗近视效果的影响。方法:回顾性临床研究545例8-12岁近视儿童,初次配戴角膜塑形镜1年。对60名参与者进行了全基因组测序(WGS),分为两组,一组是轴向长度(AL)快速进展大于0.33 mm,另一组是AL缓慢进展小于0.09 mm。RetNet数据库用于筛选可能有助于角膜塑形镜控制近视有效性的候选基因。结果:基线AL、球等效(SE)和年龄越大的儿童配戴角膜塑形镜控制近视效果越好。在近视进展缓慢的患者中观察到显著过量的非同义变异,这些变异在视网膜疾病相关基因中显著富集。随后,我们发现RIMS2[比值比(OR) = 0.01, P = 0.0097]和LCA5 (OR = 9.27, P = 0.0089)在进展缓慢的高度近视患者中存在过多的非同义变异。SLC7A14的两个内含子共同变异rs36006402和CLUAP1的rs2285814与AL生长密切相关。这些与角膜塑形镜治疗近视儿童有效性相关的新基因的鉴定为角膜塑形镜治疗的遗传机制提供了深入的见解。结论:角膜塑形镜治疗的效果与控制近视眼AL生长的个体差异有关。当患者携带更多视网膜疾病相关基因组的非同义变体时,疗效增加。这些数据可为选择角膜塑形镜控制近视患者的遗传咨询和管理提供参考。
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引用次数: 0
Iridectomy combined with posterior approach anterior chamber gas injection technique: a novel technique for the treatment of extensive Descemet's membrane detachment. 虹膜切除术联合后入路前房气体注射技术:一种治疗大面积Descemet膜脱离的新技术。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-03-09 DOI: 10.1186/s40662-025-00428-2
Yu Shen, Yongqiao Chen, Fei Yin, Luyi Zhang, Xiaoxia Li, Jing Wu, Miaoqin Wu

Background: To present the iridectomy combined with posterior approach anterior chamber gas injection technique for the treatment of extensive Descemet's membrane detachment (DMD), which is a novel surgical approach for the management of DMD after phacoemulsification.

Case presentation: The surgical technique was performed on a 68-year-old female with a history of cataract phacoemulsification surgery and two times of anterior chamber gas injection to treat DMD. After creating a scleral tunnel at 4 o'clock of the limbus, the iris root in that direction was cut off. This was confirmed via an iris root incision indicating that the syringe needle entered the posterior chamber through the scleral tunnel. The anterior chamber was filled about 3/4 with 16% C3F8. After surgery, patients were required to maintain a supine position without pillows. One month post-surgery, the cornea was transparent, DMD had fully recovered, and the best corrected visual acuity improved to 20/20.

Conclusions: The iridectomy combined with a posterior approach anterior chamber gas injection technique can be used as an alternative surgical option for the management of extensive DMD in patients who have undergone several ineffective anterior chamber gas injection surgeries.

背景:介绍虹膜切除联合后路前房气体注射技术治疗广泛性Descemet膜脱离(DMD),这是一种治疗超声乳化术后DMD的新手术入路。病例介绍:该手术技术应用于一位68岁女性,有白内障超声乳化手术史,两次前房气体注射治疗DMD。在角膜缘的4点钟位置形成巩膜隧道后,这个方向的虹膜根被切断。这是通过虹膜根部切口证实的,表明注射器针头通过巩膜隧道进入后房。前房约3/4填充了16%的C3F8。术后患者需保持仰卧位,不带枕头。术后1个月,角膜透明,DMD完全恢复,最佳矫正视力提高至20/20。结论:虹膜切除术联合后路前房注气技术可作为治疗多次前房注气手术无效的广泛性DMD患者的替代手术选择。
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引用次数: 0
Myopia control efficacy of spectacle lenses with highly aspherical lenslets: results of a 5-year follow-up study. 高度非球面眼镜镜片控制近视的效果:一项5年随访研究结果。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-03-05 DOI: 10.1186/s40662-025-00427-3
Xue Li, Yingying Huang, Chenyao Liu, Xindan Chang, Zaifeng Cui, Qiulin Yang, Björn Drobe, Mark A Bullimore, Hao Chen, Jinhua Bao

Purpose: To evaluate myopia control efficacy in myopic children wearing spectacle lenses with highly aspherical lenslets (HAL) for 5 years.

Methods: This is a randomized, double-masked extended trial. Myopic children aged 8 to 13 years who were originally allocated to the HAL group in the 2-year clinical trial. The HAL group underwent a 5-year assessment for myopia progression using cycloplegic spherical equivalent refraction (SER) and axial length (AL). An extrapolated single-vision spectacle lenses (ESVL) group was used as a control group. The 5-year myopia progression and axial elongation of the ESVL group was calculated based on the 2-year data from the single-vision spectacle lenses group in the same clinical trial, and the data for the following 3 years was estimated by assuming an annual reduction in SER by 9.7% and in AL by 15%. A generalized linear model approach was used to evaluate the treatment efficacy. The validity of the ESVL group was evaluated by comparing myopia progression in the first year of the 3-year estimates with a single-vision spectacle lenses (SVL2) group from a 1-year extended study of the same clinical trial.

Results: Forty-three participants from the original HAL group completed the 5-year visit (74%). Five-year myopia progression [mean ± standard error (SE)] in the HAL group was - 1.27 ± 0.14 D. Compared with the ESVL (- 3.03 ± 0.18 D), myopia progression was - 1.75 ± 0.24 D less for the HAL group (P < 0.001). The mean AL elongation over 5 years was 0.67 ± 0.06 mm for the HAL group compared with 1.40 mm in the ESVL group (P < 0.001), AL elongation was slower by 0.72 ± 0.10 mm for the HAL group (P < 0.001). No significant differences were found for myopia (- 0.58 ± 0.04 D vs. - 0.56 ± 0.05 D) or AL elongation (0.28 ± 0.02 mm vs. 0.28 ± 0.02 mm) between the ESVL group and SVL2 group (PSER = 0.83; PAL = 0.93) in year 3.

Conclusions: In this 5-year study, HAL spectacles reduced the rate of myopia progression and axial elongation, preventing the equivalent of 3 years of myopia progression and axial elongation. Long-term use of HAL spectacles also decreased the incidence of high myopia. Extrapolated control groups are valid for evaluating myopia progression in long-term studies. Trial registration The study was registered at the Chinese Clinical Trial Registry (ChiCTR2100047262), https://www.chictr.org.cn/showproj.html?proj=127182 .

目的:评价近视儿童配戴高度非球面镜片(HAL) 5年控制近视的效果。方法:这是一项随机、双盲的扩展试验。在为期2年的临床试验中,最初被分配到HAL组的8至13岁的近视儿童。HAL组接受了5年的近视进展评估,使用单眼瘫痪的等效球面屈光度(SER)和眼轴长度(AL)。外推单视力镜片组(ESVL)作为对照组。ESVL组的5年近视进展和轴向伸长率是根据同一临床试验中单视力镜片组2年的数据计算的,之后3年的数据是假设SER每年减少9.7%,AL每年减少15%来估计的。采用广义线性模型方法评价治疗效果。ESVL组的有效性是通过比较3年估计第一年的近视进展情况与来自同一临床试验的1年扩展研究的单视力镜片组(SVL2)来评估的。结果:来自原HAL组的43名参与者完成了5年的随访(74%)。HAL组5年近视进展[平均±标准误差(SE)]为- 1.27±0.14 D,与ESVL组(- 3.03±0.18 D)相比,HAL组的近视进展缩短了- 1.75±0.24 D (P SER = 0.83;PAL = 0.93)。结论:在这项为期5年的研究中,HAL眼镜降低了近视进展和轴向伸长的速度,防止了相当于3年的近视进展和轴向伸长。长期使用HAL眼镜也降低了高度近视的发生率。在长期研究中,外推的对照组对于评估近视进展是有效的。本研究在中国临床试验注册中心注册(ChiCTR2100047262), https://www.chictr.org.cn/showproj.html?proj=127182。
{"title":"Myopia control efficacy of spectacle lenses with highly aspherical lenslets: results of a 5-year follow-up study.","authors":"Xue Li, Yingying Huang, Chenyao Liu, Xindan Chang, Zaifeng Cui, Qiulin Yang, Björn Drobe, Mark A Bullimore, Hao Chen, Jinhua Bao","doi":"10.1186/s40662-025-00427-3","DOIUrl":"10.1186/s40662-025-00427-3","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate myopia control efficacy in myopic children wearing spectacle lenses with highly aspherical lenslets (HAL) for 5 years.</p><p><strong>Methods: </strong>This is a randomized, double-masked extended trial. Myopic children aged 8 to 13 years who were originally allocated to the HAL group in the 2-year clinical trial. The HAL group underwent a 5-year assessment for myopia progression using cycloplegic spherical equivalent refraction (SER) and axial length (AL). An extrapolated single-vision spectacle lenses (ESVL) group was used as a control group. The 5-year myopia progression and axial elongation of the ESVL group was calculated based on the 2-year data from the single-vision spectacle lenses group in the same clinical trial, and the data for the following 3 years was estimated by assuming an annual reduction in SER by 9.7% and in AL by 15%. A generalized linear model approach was used to evaluate the treatment efficacy. The validity of the ESVL group was evaluated by comparing myopia progression in the first year of the 3-year estimates with a single-vision spectacle lenses (SVL2) group from a 1-year extended study of the same clinical trial.</p><p><strong>Results: </strong>Forty-three participants from the original HAL group completed the 5-year visit (74%). Five-year myopia progression [mean ± standard error (SE)] in the HAL group was - 1.27 ± 0.14 D. Compared with the ESVL (- 3.03 ± 0.18 D), myopia progression was - 1.75 ± 0.24 D less for the HAL group (P < 0.001). The mean AL elongation over 5 years was 0.67 ± 0.06 mm for the HAL group compared with 1.40 mm in the ESVL group (P < 0.001), AL elongation was slower by 0.72 ± 0.10 mm for the HAL group (P < 0.001). No significant differences were found for myopia (- 0.58 ± 0.04 D vs. - 0.56 ± 0.05 D) or AL elongation (0.28 ± 0.02 mm vs. 0.28 ± 0.02 mm) between the ESVL group and SVL2 group (P<sub>SER</sub> = 0.83; P<sub>AL</sub> = 0.93) in year 3.</p><p><strong>Conclusions: </strong>In this 5-year study, HAL spectacles reduced the rate of myopia progression and axial elongation, preventing the equivalent of 3 years of myopia progression and axial elongation. Long-term use of HAL spectacles also decreased the incidence of high myopia. Extrapolated control groups are valid for evaluating myopia progression in long-term studies. Trial registration The study was registered at the Chinese Clinical Trial Registry (ChiCTR2100047262), https://www.chictr.org.cn/showproj.html?proj=127182 .</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"10"},"PeriodicalIF":4.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preoperative edema severity affects outcomes after Descemet membrane endothelial keratoplasty for Fuchs endothelial corneal dystrophy: a cohort study. 术前水肿严重程度影响富克斯内皮性角膜营养不良患者行Descemet膜内皮角膜移植术后的预后:一项队列研究。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-03-01 DOI: 10.1186/s40662-025-00425-5
Maximilian Friedrich, Hyeck-Soo Son, Jasper Lind, Maximilian Hammer, Lizaveta Chychko, Timur Mert Yildirim, Gerd Uwe Auffarth, Victor Aristide Augustin

Background: In patients with Fuchs endothelial corneal dystrophy (FECD), the most beneficial stage to perform Descemet membrane endothelial keratoplasty (DMEK) remains uncertain. The goal of this study was to compare the surgical outcomes after DMEK in FECD patients with subclinical corneal edema and clinical corneal edema to test the hypothesis of whether performing surgery in subclinical corneal edema stages achieves better surgical outcomes.

Methods: In this prospective, observational, single-institution cohort study, 106 pseudophakic eyes of 85 patients with FECD were divided into two groups depending on the presence of preoperative subclinical and clinical corneal edema. Subclinical corneal edema was diagnosed if more than one of the following criteria was present in Scheimpflug tomography: loss of regular isopachs, displacement of the thinnest point of the cornea, and focal posterior corneal surface depression. Clinical corneal edema was diagnosed with slit-lamp biomicroscopy. The primary outcome was the corrected distance visual acuity (CDVA) 4 months after DMEK. Secondary outcomes were central corneal thickness (CCT), thinnest corneal thickness (TCT), and total corneal density (TCD) in Scheimpflug tomography, as well as endothelial cell loss (ECL) and the re-bubbling rate. The differences between both groups were analyzed using clustered Wilcoxon rank-sum tests or a Chi-squared test.

Results: Postoperative CDVA was significantly better in the group with subclinical edema (0.18 ± 0.12 logMAR) compared to the group with clinical edema (0.24 ± 0.19 logMAR; P = 0.026). Four months after DMEK, TCD was higher in the group with preoperative clinical edema [31.7 ± 8.3 gray scale units (GSU)] compared to the group with subclinical edema (27.8 ± 6.1 GSU; P = 0.005). The postoperative CCT, TCT, ECL, and re-bubbling rates did not differ significantly between both groups (all P > 0.05).

Conclusions: DMEK for FECD yielded better visual acuity after 4 months when performed in the early stage of FECD compared to a later stage with clinical edema. This may be attributable to persistent corneal fibrosis after DMEK in eyes with preoperative clinically evident corneal edema, as suggested by higher postoperative corneal density in eyes with clinical edema. Consequently, the findings advocate for the consideration of earlier DMEK in FECD patients to achieve better surgical recovery.

背景:在Fuchs内皮性角膜营养不良(FECD)患者中,实施Descemet膜内皮角膜移植术(DMEK)的最有利阶段仍不确定。本研究的目的是比较feecd亚临床角膜水肿患者与临床角膜水肿患者行DMEK后的手术效果,以验证在亚临床角膜水肿期进行手术是否能获得更好的手术效果。方法:在这项前瞻性、观察性、单机构队列研究中,根据术前亚临床和临床角膜水肿的存在将85例FECD患者的106只假性晶状眼分为两组。如果在Scheimpflug断层扫描中出现以下标准之一以上,则诊断为亚临床角膜水肿:正常等厚缺失,角膜最薄点移位,角膜后表面局灶性凹陷。应用裂隙灯生物显微镜诊断临床角膜水肿。主要观察指标为DMEK术后4个月的矫正距离视力(CDVA)。次要结果为角膜中央厚度(CCT)、最薄角膜厚度(TCT)和角膜总密度(TCD),以及内皮细胞损失(ECL)和再泡率。两组间的差异采用聚类Wilcoxon秩和检验或卡方检验进行分析。结果:亚临床水肿组术后CDVA(0.18±0.12 logMAR)明显优于临床水肿组(0.24±0.19 logMAR;p = 0.026)。DMEK后4个月,术前临床水肿组TCD[31.7±8.3灰度单位(GSU)]高于亚临床水肿组(27.8±6.1 GSU;p = 0.005)。两组术后CCT、TCT、ECL、再泡率差异无统计学意义(均P < 0.05)。结论:与临床水肿晚期相比,FECD早期DMEK在4个月后获得了更好的视力。这可能是由于术前有明显的角膜水肿的眼睛在DMEK后角膜持续纤维化,临床水肿的眼睛术后角膜密度较高。因此,研究结果提倡在FECD患者中考虑早期DMEK以获得更好的手术恢复。
{"title":"Preoperative edema severity affects outcomes after Descemet membrane endothelial keratoplasty for Fuchs endothelial corneal dystrophy: a cohort study.","authors":"Maximilian Friedrich, Hyeck-Soo Son, Jasper Lind, Maximilian Hammer, Lizaveta Chychko, Timur Mert Yildirim, Gerd Uwe Auffarth, Victor Aristide Augustin","doi":"10.1186/s40662-025-00425-5","DOIUrl":"10.1186/s40662-025-00425-5","url":null,"abstract":"<p><strong>Background: </strong>In patients with Fuchs endothelial corneal dystrophy (FECD), the most beneficial stage to perform Descemet membrane endothelial keratoplasty (DMEK) remains uncertain. The goal of this study was to compare the surgical outcomes after DMEK in FECD patients with subclinical corneal edema and clinical corneal edema to test the hypothesis of whether performing surgery in subclinical corneal edema stages achieves better surgical outcomes.</p><p><strong>Methods: </strong>In this prospective, observational, single-institution cohort study, 106 pseudophakic eyes of 85 patients with FECD were divided into two groups depending on the presence of preoperative subclinical and clinical corneal edema. Subclinical corneal edema was diagnosed if more than one of the following criteria was present in Scheimpflug tomography: loss of regular isopachs, displacement of the thinnest point of the cornea, and focal posterior corneal surface depression. Clinical corneal edema was diagnosed with slit-lamp biomicroscopy. The primary outcome was the corrected distance visual acuity (CDVA) 4 months after DMEK. Secondary outcomes were central corneal thickness (CCT), thinnest corneal thickness (TCT), and total corneal density (TCD) in Scheimpflug tomography, as well as endothelial cell loss (ECL) and the re-bubbling rate. The differences between both groups were analyzed using clustered Wilcoxon rank-sum tests or a Chi-squared test.</p><p><strong>Results: </strong>Postoperative CDVA was significantly better in the group with subclinical edema (0.18 ± 0.12 logMAR) compared to the group with clinical edema (0.24 ± 0.19 logMAR; P = 0.026). Four months after DMEK, TCD was higher in the group with preoperative clinical edema [31.7 ± 8.3 gray scale units (GSU)] compared to the group with subclinical edema (27.8 ± 6.1 GSU; P = 0.005). The postoperative CCT, TCT, ECL, and re-bubbling rates did not differ significantly between both groups (all P > 0.05).</p><p><strong>Conclusions: </strong>DMEK for FECD yielded better visual acuity after 4 months when performed in the early stage of FECD compared to a later stage with clinical edema. This may be attributable to persistent corneal fibrosis after DMEK in eyes with preoperative clinically evident corneal edema, as suggested by higher postoperative corneal density in eyes with clinical edema. Consequently, the findings advocate for the consideration of earlier DMEK in FECD patients to achieve better surgical recovery.</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"9"},"PeriodicalIF":4.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of preoperative variables on the 3-month functional outcomes of the Vivity extended depth-of-focus intraocular lens: a prospective case series. 术前变量对活体延长焦深人工晶状体术后3个月功能结局的影响:前瞻性病例系列
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-02-02 DOI: 10.1186/s40662-024-00424-y
Giacomo Savini, Alice Galzignato, Catarina P Coutinho, Jinhai Huang, Yue Wu, Piero Barboni, João Mendanha Dias, Filomena J Ribeiro, Domenico Schiano-Lomoriello

Background: To investigate the functional results of the AcrySof IQ Vivity (Alcon, Fort Worth, TX) extended depth-of-focus intraocular lens (EDoF-IOL) and explore correlations between the preoperative biometric parameters and the postoperative functional outcomes.

Methods: In a prospective, single-center, non-randomized study, axial length, keratometry, anterior chamber depth, scotopic and photopic pupil diameters, pupil decentration, corneal asphericity, corneal higher-order aberrations (HOAs), coma and spherical aberration were measured preoperatively. The EDoF-IOL was implanted bilaterally. Three months postoperatively, manifest refraction, monocular and binocular uncorrected and corrected visual acuity at 4 m, 66 cm and 40 cm, binocular defocus curve, binocular contrast sensitivity, halometry and Strehl ratio were measured. Visual disturbances and spectacle independence were assessed with McAlinden and IOLSAT questionnaires, respectively. Assuming a minimum Pearson r correlation coefficient between variables of 0.5 with a power of 80% and a P value less than 0.05, a minimum sample size of 29 (58 eyes) cases was required.

Results: Forty-three patients were enrolled. Binocular distance corrected visual acuity was lower than 0.1 logMAR for a defocus between + 1.0 and - 1.5 D. The mean values at 66 cm and 40 cm were - 0.07 ± 0.06 and 0.19 ± 0.13 logMAR, respectively. McAlinden's questionnaire revealed mean scores close to zero for all questions. The IOLSAT questionnaire showed that spectacles were never used for distance and intermediate vision. Regression analysis did not disclose any significant correlation between the preoperatively measured variables and the postoperative outcomes, with a few exceptions: preoperative higher order corneal aberrations were correlated to halometry area (r2 = 0.2592, P = 0.0006) and the Q value to contrast sensitivity (r2 = 0.1717, P = 0.00574) under photopic conditions with glare at a spatial frequency of 18 cpd and without glare for all spatial frequencies (P < 0.01); it was also correlated to contrast sensitivity under mesopic conditions without glare at a spatial frequency of 12 cpd (r2 = 0.2311, P = 0.0011).

Conclusions: In healthy unoperated eyes, the visual outcomes for this EDoF-IOL are independent of most of the patients' preoperative parameters. Attention should be paid to preoperative corneal aberrations and asphericity, which did not lead to visual disturbances, but may be potential sources of halo and reduced contrast sensitivity.

背景:研究AcrySof IQ Vivity (Alcon, Fort Worth, TX)扩展焦深人工晶状体(EDoF-IOL)的功能结果,探讨术前生物特征参数与术后功能结果的相关性。方法:在一项前瞻性、单中心、非随机研究中,术前测量眼轴长、角膜测量、前房深度、暗位和光位瞳孔直径、瞳孔分散、角膜非球面度、角膜高阶像差(HOAs)、昏迷和球差。双侧植入EDoF-IOL。术后3个月,测量明显屈光、单眼、双眼未矫正视力、4 m、66 cm、40 cm矫正视力、双眼离焦曲线、双眼对比敏感度、光饱和度、Strehl比。分别用McAlinden问卷和IOLSAT问卷评估视力障碍和眼镜独立性。假设变量之间的Pearson r相关系数最小为0.5,幂为80%,P值小于0.05,则需要最小样本量为29(58眼)例。结果:纳入43例患者。离焦在+ 1.0 ~ - 1.5 d时,双眼距离矫正视力低于0.1 logMAR, 66 cm和40 cm处的平均值分别为- 0.07±0.06和0.19±0.13 logMAR。麦卡林登的问卷显示,所有问题的平均得分都接近于零。IOLSAT问卷显示,眼镜从未用于远距离和中间视力。回归分析未发现术前测量变量与术后结果之间存在显著相关性,只有少数例外:术前高阶角膜像差与光量测量面积相关(r2 = 0.2592, P = 0.0006),在空间频率为18 cpd的光条件下与所有空间频率无眩光条件下的Q值与对比敏感度相关(r2 = 0.1717, P = 0.00574) (P 2 = 0.2311, P = 0.0011)。结论:在未手术的健康眼睛中,这种EDoF-IOL的视力结果与大多数患者的术前参数无关。术前应注意角膜像差和非球形,它们不会导致视力障碍,但可能是光晕和对比度降低的潜在来源。
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引用次数: 0
Real-world study of phakic refractive lens for correction of high myopia. 有晶状体屈光透镜矫正高度近视的现实研究。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-02-02 DOI: 10.1186/s40662-024-00423-z
An-Peng Pan, Xu Shao, Yi-Ke Li, Zi-Yue Li, Qiong Yan, Wei-Yang Sun, A-Yong Yu

Background: To assess the safety and efficacy of phakic refractive lens (PRL) implantation for correcting high myopia, as well as an ophthalmic viscosurgical device-free (OVD-free) method for PRL implantation.

Methods: In this real-world prospective study, consecutive patients implanted with PRL in one or both eyes were enrolled. Based on the surgical techniques used, the eyes were divided into the OVD-free method group and the conventional method group. The patients were examined 2 h after surgery and were scheduled for follow-up at 1 day, 1 week, 1 month, 3 months, 6 months, and 12 months. The corrected distance visual acuity (CDVA), uncorrected distance visual acuity (UDVA), the manifest refraction spherical equivalent (MRSE), intraocular pressure (IOP) and lens vault were assessed postoperatively. Corneal endothelial cell density (ECD) was measured at the 3- and 12-month postoperative visits.

Results: Fifty-seven consecutive patients (108 eyes) were enrolled. At the 3-month postoperative visit, both mean UDVA and CDVA were significantly improved after PRL implantation (0.19 ± 0.21 and 0.01 ± 0.14 logMAR) with efficacy index and safety index of 0.92 and 1.30, respectively. None of the eyes had any loss of CDVA. The percentage of eyes within ± 0.50 D and ± 1.00 D of target refraction was 58% and 83%, respectively. Mean MRSE changed from - 14.49 ± 4.22 D, preoperatively, to - 1.22 ± 1.26 D at 1 day (P < 0.001) and remained stable thereafter. Mean endothelial cell loss was 11.3%, 9.6%, respectively, at 3 and 12 months, with no significant difference between the two follow-ups (P = 0.395). Fifty-nine eyes received the OVD-free method, and 49 eyes received the conventional method. The OVD-free method demonstrated a significant reduction in the incidence of early acute IOP elevations (28.8% vs. 53.1%, P = 0.022) compared to the conventional method. The difference of initial endothelial cell loss (9.4 ± 14.2% vs. 13.6 ± 14.6%) between the two groups trended toward significance (P = 0.056). In both groups, no other major complications were observed up to 12-month follow-up.

Conclusions: PRL implantation was a safe, efficient, predictable and stable method for correcting high myopia. The potential of lower incidence of early acute IOP elevations makes the OVD-free method a promising alternative to the conventional method.

Trail registration: Chinese Clinical Trial Registry, ChiCTR2100043600. Registered on 23 February 2021, https://www.chictr.org.cn/showproj.html?proj=122229.

背景:评价假晶状体(phaic refractive lens, PRL)植入术矫正高度近视的安全性和有效性,以及一种无眼粘手术装置(OVD-free)的假晶状体植入术方法。方法:在这项现实世界的前瞻性研究中,连续入组了单眼或双眼植入PRL的患者。根据手术方法的不同,将眼球分为无ovd法组和常规法组。术后2 h复查,随访时间分别为1天、1周、1个月、3个月、6个月、12个月。术后评估矫正距离视力(CDVA)、未矫正距离视力(UDVA)、明显折射球当量(MRSE)、眼压(IOP)和晶状体穹窿。术后3个月和12个月分别测量角膜内皮细胞密度(ECD)。结果:57例患者(108只眼)连续入组。术后3个月随访时,PRL植入术后平均UDVA和CDVA均显著提高(分别为0.19±0.21和0.01±0.14 logMAR),疗效指数和安全性指数分别为0.92和1.30。没有眼睛有任何CDVA损失。在±0.50 D和±1.00 D范围内的眼睛比例分别为58%和83%。平均MRSE由术前的- 14.49±4.22 D降至1 D时的- 1.22±1.26 D (P)。结论:PRL植入术是一种安全、有效、可预测、稳定的矫正高度近视的方法。早期急性IOP升高的可能性较低,使无ovd方法成为传统方法的一个有希望的替代方法。试验注册:中国临床试验注册中心,ChiCTR2100043600。于2021年2月23日注册,网址:https://www.chictr.org.cn/showproj.html?proj=122229。
{"title":"Real-world study of phakic refractive lens for correction of high myopia.","authors":"An-Peng Pan, Xu Shao, Yi-Ke Li, Zi-Yue Li, Qiong Yan, Wei-Yang Sun, A-Yong Yu","doi":"10.1186/s40662-024-00423-z","DOIUrl":"10.1186/s40662-024-00423-z","url":null,"abstract":"<p><strong>Background: </strong>To assess the safety and efficacy of phakic refractive lens (PRL) implantation for correcting high myopia, as well as an ophthalmic viscosurgical device-free (OVD-free) method for PRL implantation.</p><p><strong>Methods: </strong>In this real-world prospective study, consecutive patients implanted with PRL in one or both eyes were enrolled. Based on the surgical techniques used, the eyes were divided into the OVD-free method group and the conventional method group. The patients were examined 2 h after surgery and were scheduled for follow-up at 1 day, 1 week, 1 month, 3 months, 6 months, and 12 months. The corrected distance visual acuity (CDVA), uncorrected distance visual acuity (UDVA), the manifest refraction spherical equivalent (MRSE), intraocular pressure (IOP) and lens vault were assessed postoperatively. Corneal endothelial cell density (ECD) was measured at the 3- and 12-month postoperative visits.</p><p><strong>Results: </strong>Fifty-seven consecutive patients (108 eyes) were enrolled. At the 3-month postoperative visit, both mean UDVA and CDVA were significantly improved after PRL implantation (0.19 ± 0.21 and 0.01 ± 0.14 logMAR) with efficacy index and safety index of 0.92 and 1.30, respectively. None of the eyes had any loss of CDVA. The percentage of eyes within ± 0.50 D and ± 1.00 D of target refraction was 58% and 83%, respectively. Mean MRSE changed from - 14.49 ± 4.22 D, preoperatively, to - 1.22 ± 1.26 D at 1 day (P < 0.001) and remained stable thereafter. Mean endothelial cell loss was 11.3%, 9.6%, respectively, at 3 and 12 months, with no significant difference between the two follow-ups (P = 0.395). Fifty-nine eyes received the OVD-free method, and 49 eyes received the conventional method. The OVD-free method demonstrated a significant reduction in the incidence of early acute IOP elevations (28.8% vs. 53.1%, P = 0.022) compared to the conventional method. The difference of initial endothelial cell loss (9.4 ± 14.2% vs. 13.6 ± 14.6%) between the two groups trended toward significance (P = 0.056). In both groups, no other major complications were observed up to 12-month follow-up.</p><p><strong>Conclusions: </strong>PRL implantation was a safe, efficient, predictable and stable method for correcting high myopia. The potential of lower incidence of early acute IOP elevations makes the OVD-free method a promising alternative to the conventional method.</p><p><strong>Trail registration: </strong>Chinese Clinical Trial Registry, ChiCTR2100043600. Registered on 23 February 2021, https://www.chictr.org.cn/showproj.html?proj=122229.</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"7"},"PeriodicalIF":4.1,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Repeatability and reproducibility of a new spectral-domain optical coherence tomography biometer and agreement with swept-source optical coherence tomography based biometer. 一种新的光谱域光学相干层析生物计的可重复性和再现性及其与基于扫描源光学相干层析生物计的一致性。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-02-01 DOI: 10.1186/s40662-024-00422-0
Xin Li, Chak Seng Lei, Rui Ning, Luze Liu, Aodong Chen, Xinning Yang, Giacomo Savini, Domenico Schiano-Lomoriello, Xingtao Zhou, Jinhai Huang

Background: To assess the repeatability and reproducibility of the Colombo IOL biometer (Moptim, China), which utilizes spectral-domain optical coherence tomography (SD-OCT), in measuring ocular parameters of normal subjects and to compare its agreement with the swept-source optical coherence tomography (SS-OCT)-based IOLMaster 700 biometer (Carl Zeiss Meditec AG, Germany).

Methods: This prospective study included 91 eyes from 91 normal subjects. The evaluated parameters were axial length (AL), central corneal thickness (CCT), aqueous depth (AQD), anterior chamber depth (ACD), lens thickness (LT), flattest and steepest meridian keratometry (Kf and Ks), mean keratometry (Km), astigmatism (AST) magnitude, white-to-white (WTW) distance, and pupil diameter (PD). The within-subject standard deviation (Sw), test-retest repeatability (TRT), coefficient of variation (CoV), and intraclass correlation coefficient (ICC) were calculated to determine the repeatability and reproducibility. Paired t-tests and Bland-Altman plots with 95% limits of agreement (LoA) were employed to assess the agreement.

Results: With respect to intraobserver repeatability, the Sw and TRT values of all evaluated parameters were low. Except J45 and PD, the ICCs were all higher than 0.928. The reproducibility Sw and TRT values of Colombo IOL were also low, and ICCs were not lower than 0.900. Comparing Colombo IOL and IOLMaster 700, the 95% LoA of AL, CCT, AQD, ACD, LT, Kf, Ks, Km, AST, J0, J45, WTW and PD ranged from - 0.08 to 0.03 mm, - 21.58 to 5.09 μm, 0.01 to 0.15 mm, - 0.01 to 0.14 mm, - 0.05 to 0.10 mm, - 0.14 to 0.59 D, - 0.31 to 0.40 D, - 0.13 to 0.40 D, - 0.68 to 0.32 D, - 0.09 to 0.34 D, - 0.07 to 0.25 D, 0.11 to 1.47 mm, and - 0.97 to 2.31 mm, respectively.

Conclusion: The new SD-OCT-based Colombo IOL biometer demonstrates excellent repeatability and reproducibility. Moreover, it generally agrees well with the SS-OCT-based IOLMaster 700, except for the WTW and PD measurements.

背景:评估利用光谱域光学相干断层扫描(SD-OCT)的Colombo IOL生物计(莫普提姆,中国)测量正常对象眼部参数的可重复性和再现性,并比较其与基于扫描源光学相干断层扫描(SS-OCT)的IOLMaster 700生物计(德国卡尔蔡司Meditec AG)的一致性。方法:本前瞻性研究纳入91例正常人的91只眼。评估参数为轴长(AL)、角膜中央厚度(CCT)、水深(AQD)、前房深度(ACD)、晶状体厚度(LT)、最平坦和最陡子午角度数(Kf和Ks)、平均角度数(Km)、散光(AST)星等、白到白距离(WTW)和瞳孔直径(PD)。计算受试者内标准差(Sw)、重测重复性(TRT)、变异系数(CoV)和类内相关系数(ICC),确定重复性和再现性。采用配对t检验和95%一致性限(LoA)的Bland-Altman图来评估一致性。结果:在观察者内重复性方面,所有评价参数的Sw和TRT值均较低。除J45和PD外,ICCs均大于0.928。Colombo IOL的重现性Sw和TRT值也较低,ICCs均不低于0.900。科伦坡的晶体和IOLMaster 700相比,95%的贷款,有条件现金援助,AQD, ACD, LT, Kf, Ks,公里,AST, j₀,J45, WTW和PD范围从0.08到0.03毫米,21.58 - 5.09μm, 0.01 - 0.15毫米,0.01 - 0.14毫米,0.05 - 0.10毫米,0.14 - 0.59 D - 0.31 - 0.40 D - 0.13 - 0.40 D, 0.68 - 0.32 D - 0.09 - 0.34 D - 0.07 - 0.25 D, 0.11 - 1.47毫米,分别和- 0.97到2.31毫米。结论:基于sd - oct的科伦坡IOL生物计具有良好的重复性和再现性。此外,除了WTW和PD测量外,它通常与基于ss - oct的IOLMaster 700一致。
{"title":"Repeatability and reproducibility of a new spectral-domain optical coherence tomography biometer and agreement with swept-source optical coherence tomography based biometer.","authors":"Xin Li, Chak Seng Lei, Rui Ning, Luze Liu, Aodong Chen, Xinning Yang, Giacomo Savini, Domenico Schiano-Lomoriello, Xingtao Zhou, Jinhai Huang","doi":"10.1186/s40662-024-00422-0","DOIUrl":"10.1186/s40662-024-00422-0","url":null,"abstract":"<p><strong>Background: </strong>To assess the repeatability and reproducibility of the Colombo IOL biometer (Moptim, China), which utilizes spectral-domain optical coherence tomography (SD-OCT), in measuring ocular parameters of normal subjects and to compare its agreement with the swept-source optical coherence tomography (SS-OCT)-based IOLMaster 700 biometer (Carl Zeiss Meditec AG, Germany).</p><p><strong>Methods: </strong>This prospective study included 91 eyes from 91 normal subjects. The evaluated parameters were axial length (AL), central corneal thickness (CCT), aqueous depth (AQD), anterior chamber depth (ACD), lens thickness (LT), flattest and steepest meridian keratometry (Kf and Ks), mean keratometry (Km), astigmatism (AST) magnitude, white-to-white (WTW) distance, and pupil diameter (PD). The within-subject standard deviation (S<sub>w</sub>), test-retest repeatability (TRT), coefficient of variation (CoV), and intraclass correlation coefficient (ICC) were calculated to determine the repeatability and reproducibility. Paired t-tests and Bland-Altman plots with 95% limits of agreement (LoA) were employed to assess the agreement.</p><p><strong>Results: </strong>With respect to intraobserver repeatability, the S<sub>w</sub> and TRT values of all evaluated parameters were low. Except J<sub>45</sub> and PD, the ICCs were all higher than 0.928. The reproducibility S<sub>w</sub> and TRT values of Colombo IOL were also low, and ICCs were not lower than 0.900. Comparing Colombo IOL and IOLMaster 700, the 95% LoA of AL, CCT, AQD, ACD, LT, Kf, Ks, Km, AST, J<sub>0</sub>, J<sub>45</sub>, WTW and PD ranged from - 0.08 to 0.03 mm, - 21.58 to 5.09 μm, 0.01 to 0.15 mm, - 0.01 to 0.14 mm, - 0.05 to 0.10 mm, - 0.14 to 0.59 D, - 0.31 to 0.40 D, - 0.13 to 0.40 D, - 0.68 to 0.32 D, - 0.09 to 0.34 D, - 0.07 to 0.25 D, 0.11 to 1.47 mm, and - 0.97 to 2.31 mm, respectively.</p><p><strong>Conclusion: </strong>The new SD-OCT-based Colombo IOL biometer demonstrates excellent repeatability and reproducibility. Moreover, it generally agrees well with the SS-OCT-based IOLMaster 700, except for the WTW and PD measurements.</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"6"},"PeriodicalIF":4.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11786401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Topographic correlation of microperimetry with foveal microstructure characteristics in idiopathic epiretinal membrane patients with an ectopic inner foveal layer. 特发性视网膜前膜内中央凹层异位患者显微视野与中央凹微观结构特征的地形相关性研究。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-02-01 DOI: 10.1186/s40662-024-00419-9
Qianqian Wang, Congyao Wang, Yihua Su, Fenfen Yu, Tingting Chen, Xia Dong, Pengxia Wan

Purpose: To identify foveal structure-function topographic association and relationship in patients with idiopathic epiretinal membrane (ERM) related to ectopic inner foveal layer (EIFL).

Methods: This was a cross-sectional, observational study that involved 40 individuals with idiopathic ERM: 22 without EIFL (Group 1) and 18 with EIFL (Group 2). Quantitative foveal light sensitivity was measured using microperimetry, and foveal microstructure was assessed using spectral-domain optical coherence tomography (SD-OCT) and optical coherence tomography angiography (OCTA). Multiple indices of microvascular parameters of OCTA images were further processed using the AngioTool software. LASSO regression and quantile regression analyses were performed to identify the spatial distribution correlation between foveal light sensitivity and foveal microstructure parameters.

Results: Group 2 exhibited reduced light sensitivity across all parameters of microperimetry compared to Group 1 (P < 0.001). Additionally, the central foveal thickness, the percentage of ellipsoid zone disruption, and the foveal avascular zone area were significantly lower in Group 1 than in Group 2 (all P < 0.005). Compared to Group 1, the vessel density (VD) and perfusion density of the foveal region was significantly increased in Group 2 (P < 0.001). In contrast, Group 2 showed significantly decreased VD in the parafoveal region compared with Group 1 (P < 0.05). Significant differences in OCTA parameters including 'total number of junctions', 'junction density', 'total vessel length', 'average vessel length', 'total number of end points' were observed between Group 1 and Group 2 (all P < 0.01). The foveal light sensitivity was significantly positively correlated with VD in the parafoveal region and negatively correlated with EIFL alteration, best-corrected visual acuity and ellipsoid zone disruption [Log(λ) = - 0.18303, λ = 0.6561].

Conclusions: The presence of EIFL and decreased VD in the parafoveal region, factors that collectively elevate the risk of disease progression, are significantly and independently correlated with reduced microperimetric retinal sensitivity in patients with idiopathic ERM.

目的:探讨与异位内中央凹层(EIFL)相关的特发性视网膜前膜(ERM)患者的中央凹结构与功能的关系。方法:这是一项横断面观察性研究,涉及40例特发性ERM患者:22例无EIFL(1组),18例有EIFL(2组)。使用显微显微镜测量定量中央凹光敏度,使用光谱域光学相干断层扫描(SD-OCT)和光学相干断层扫描血管造影(OCTA)评估中央凹微观结构。利用AngioTool软件对OCTA图像的多个微血管参数指标进行进一步处理。采用LASSO回归和分位数回归分析,确定了中央凹光敏度与中央凹显微结构参数的空间分布相关性。结果:与第1组相比,第2组在显微视野的所有参数中都表现出较低的光敏性(P)。结论:EIFL的存在和中央凹旁区VD的降低,这些共同增加疾病进展风险的因素,与特发性ERM患者显微视野视网膜敏感性降低显著且独立相关。
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引用次数: 0
Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population. 全基因组测序确定了中国汉族人群圆锥角膜的新位点,并促进了风险分层。
IF 4.1 1区 医学 Q1 OPHTHALMOLOGY Pub Date : 2025-01-06 DOI: 10.1186/s40662-024-00421-1
Yinghao Yao, Xingyong Li, Lan Wu, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, Xinyu Liu, Shilai Xing, Gang An, Zhenlin Du, Hui Liu, Shasha Li, Xiaoguang Yu, Hua Chen, Jianzhong Su, Shihao Chen

Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown. This study was conducted to identify novel genetic variants linked to KC and to evaluate the potential applicability of a polygenic risk model in the Han Chinese population.

Methods: A total of 830 individuals diagnosed with KC and 779 controls from a Chinese cohort were enrolled and genotyped by whole-genome sequencing (WGS). Common and rare variants were respectively subjected to single variant association analysis and gene-based burden analysis. Polygenic risk score (PRS) models were developed using top single-nucleotide polymorphisms (SNPs) identified from a multi-ethnic meta-analysis and then evaluated in the Chinese cohort.

Results: The characterization of germline variants entailed correction for population stratification and validation of the East Asian ancestry of the included samples via principal component analysis. For rare protein-truncating variants (PTVs) with minor allele frequency (MAF) < 5%, ZC3H11B emerged as the top prioritized gene, albeit failing to reach the significance threshold. We detected three common variants reaching genome-wide significance (P ≤ 5 × 10-8), all of which are novel to KC. Our study validated three well known predisposition loci, COL5A1, EIF3A and FNDC3B. Additionally, a significant correlation of allelic effects was observed for suggestive SNPs between the largest multi-ethnic meta-genome-wide association study (GWAS) and our study. The PRS model, generated using top SNPs from the meta-GWAS, stratified individuals in the upper quartile, revealing up to a 2.16-fold increased risk for KC.

Conclusions: Our comprehensive WGS-based GWAS in a large Chinese cohort enhances the efficiency of array-based genetic studies, revealing novel genetic associations for KC and highlighting the potential for refining clinical decision-making and early prevention strategies.

背景:圆锥角膜(KC)是一种常见的角膜疾病,具有一定的遗传基础。最近的研究报告了多种族人群中显著的遗传关联。然而,中国人口的情况仍然未知。本研究旨在确定与KC相关的新遗传变异,并评估多基因风险模型在汉族人群中的潜在适用性。方法:通过全基因组测序(WGS)对来自中国队列的830例确诊为KC的个体和779例对照进行基因分型。常见变异体和罕见变异体分别进行单变关联分析和基因负担分析。多基因风险评分(PRS)模型是利用多民族荟萃分析中发现的顶级单核苷酸多态性(snp)建立的,然后在中国队列中进行评估。结果:种系变异的表征需要对群体分层进行校正,并通过主成分分析对纳入样本的东亚血统进行验证。对于具有较小等位基因频率(MAF) -8的罕见蛋白截断变异体(PTVs),我们的研究验证了三个已知的易感位点COL5A1, EIF3A和FNDC3B。此外,在最大的多种族元基因组关联研究(GWAS)和我们的研究之间,观察到等位基因效应的显著相关性。利用meta-GWAS的顶级snp生成的PRS模型,将上四分位数的个体分层,揭示出KC风险增加了2.16倍。结论:我们在一个大型中国队列中全面的基于wgs的GWAS提高了基于阵列的遗传研究的效率,揭示了KC的新遗传关联,并强调了改进临床决策和早期预防策略的潜力。
{"title":"Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.","authors":"Yinghao Yao, Xingyong Li, Lan Wu, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, Xinyu Liu, Shilai Xing, Gang An, Zhenlin Du, Hui Liu, Shasha Li, Xiaoguang Yu, Hua Chen, Jianzhong Su, Shihao Chen","doi":"10.1186/s40662-024-00421-1","DOIUrl":"https://doi.org/10.1186/s40662-024-00421-1","url":null,"abstract":"<p><strong>Background: </strong>Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown. This study was conducted to identify novel genetic variants linked to KC and to evaluate the potential applicability of a polygenic risk model in the Han Chinese population.</p><p><strong>Methods: </strong>A total of 830 individuals diagnosed with KC and 779 controls from a Chinese cohort were enrolled and genotyped by whole-genome sequencing (WGS). Common and rare variants were respectively subjected to single variant association analysis and gene-based burden analysis. Polygenic risk score (PRS) models were developed using top single-nucleotide polymorphisms (SNPs) identified from a multi-ethnic meta-analysis and then evaluated in the Chinese cohort.</p><p><strong>Results: </strong>The characterization of germline variants entailed correction for population stratification and validation of the East Asian ancestry of the included samples via principal component analysis. For rare protein-truncating variants (PTVs) with minor allele frequency (MAF) < 5%, ZC3H11B emerged as the top prioritized gene, albeit failing to reach the significance threshold. We detected three common variants reaching genome-wide significance (P ≤ 5 × 10<sup>-8</sup>), all of which are novel to KC. Our study validated three well known predisposition loci, COL5A1, EIF3A and FNDC3B. Additionally, a significant correlation of allelic effects was observed for suggestive SNPs between the largest multi-ethnic meta-genome-wide association study (GWAS) and our study. The PRS model, generated using top SNPs from the meta-GWAS, stratified individuals in the upper quartile, revealing up to a 2.16-fold increased risk for KC.</p><p><strong>Conclusions: </strong>Our comprehensive WGS-based GWAS in a large Chinese cohort enhances the efficiency of array-based genetic studies, revealing novel genetic associations for KC and highlighting the potential for refining clinical decision-making and early prevention strategies.</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"5"},"PeriodicalIF":4.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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Eye and Vision
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