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Genetic Evidence Supporting a Causal Role of Snoring in Keratoconus: A Bidirectional Mendelian Randomization Study. 支持打鼾在角膜塑形镜中起因作用的遗传学证据:一项双向孟德尔随机研究。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-05 DOI: 10.1097/ICO.0000000000003741
Xi Chen, Shiji Liu, Chang Liu, Yuke Huang, Xiangtao Hou, Jiejie Zhuang, Yiqi Luo, Na Yu, Jing Zhuang, Keming Yu

Purpose: To clarify the controversial causal association between snoring and keratoconus (KCN), which is crucial in clinical prevention and treatment.

Methods: This is a 2-sample bidirectional mendelian randomization (MR) case-control study. MR is an innovative method that uses genetic variation as a natural experiment to investigate the causal relationships between potentially modifiable risk factors and health outcomes in observational data. The single nucleotide polymorphisms associated with snoring were retrieved from the UK biobank cohort with 218,346 participants (61,792 cases and 156,554 controls). The summary statistics of KCN were obtained from the European ancestry with 209,598 subjects (311 cases and 209,287 controls). The inverse-variance-weighted method was applied as the primary estimate, whereas weighted median and MR-pleiotropy residual sum and outlier played a subsidiary role.

Results: Elevated risk of snoring showed a robust causal effect on KCN (inverse-variance-weighted: causal effect = 9.821, 95% confidence interval [CI], 1.944-17.699, P = 0.015), which was consistent with complementary methods of the weighted median (causal effect = 11.117, 95% CI, 2.603-19.631, P = 0.010), maximum likelihood (causal effect = 10.245, 95% CI, 3.967-16.523, P = 0.001), and MR-pleiotropy residual sum and outlier (causal effect = 9.793, 95% CI, 2.316-17.269, P = 0.028). However, there was no causality of KCN on the increasing risk of snoring.

Conclusions: This study provides genetic evidence supporting the causal role of snoring on KCN. Our findings provide new insights into potential strategies to manage KCN.

目的:澄清打鼾与角膜病(KCN)之间存在争议的因果关系,这对临床预防和治疗至关重要:这是一项双样本双向泯灭随机化(MR)病例对照研究。泯灭随机化是一种创新方法,它利用基因变异作为自然实验,研究观察数据中潜在的可改变风险因素与健康结果之间的因果关系。与打鼾有关的单核苷酸多态性是从英国生物库的 218,346 人队列(61,792 例病例和 156,554 例对照)中提取的。KCN 的汇总统计数据来自欧洲血统的 209,598 名受试者(311 例病例和 209,287 例对照)。采用逆方差加权法作为主要估算方法,而加权中位数、MR-pleiotropy残差和离群值则起辅助作用:结果:鼾症风险的升高对 KCN 有稳健的因果效应(逆方差加权法:因果效应 = 9.821,95% 置信区间 [CI],1.944-17.699,P = 0.015),这与加权中位数的补充方法一致(因果效应 = 11.117,95% CI,2.603-19.631,P = 0.010)、最大似然法(因果效应 = 10.245,95% CI,3.967-16.523,P = 0.001)以及 MR-pleiotropy 残差和离群值法(因果效应 = 9.793,95% CI,2.316-17.269,P = 0.028)。然而,KCN 与打鼾风险的增加没有因果关系:本研究提供了遗传学证据,支持鼾症对 KCN 的因果关系。我们的研究结果为管理 KCN 的潜在策略提供了新的见解。
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引用次数: 0
Sociodemographic Predictors of Keratoconus (Severity, Treatment, and Progression) in a Tertiary Center in New York City. 纽约市一家三级中心的角膜病(严重程度、治疗和进展)社会人口学预测因素。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-05 DOI: 10.1097/ICO.0000000000003749
Rania E Gad, Andres Serrano, Alexis Dal Col, Rachel Kutler, Danielle Trief, Weijie V Lin, Gabriel Rand, George J Florakis, Leejee H Suh

Purpose: To identify sociodemographic factors as predictors of keratoconus severity, progression, disease outcomes, and appropriate management in a tertiary care ophthalmology institute in the New York City metropolitan area.

Methods: This is a retrospective chart review. Patients with keratoconus presenting at a tertiary eye institute in an urban setting seen between 2015 and 2022 were included. Sociodemographic data including age, sex, race, ethnicity, income derived from zip code, insurance coverage, and preferred language were recorded. These sociodemographic factors were analyzed as possible predictors of keratoconus severity at presentation (Amsler-Krumeich grades III and IV): patients presenting with acute hydrops, patients receiving corneal cross-linking or corneal transplant, patients showing 1 or more diopters of increase of Kmax during their follow-up, and patients having longer time between the provider's recommendation of corneal cross-linking and the time of the procedure.

Results: The retrospective review included 634 patients with a clinical diagnosis of keratoconus. Factors associated with severe keratoconus at presentation in the multivariate analysis were non-White (P < 0.001), lowest income (Q1) (P = 0.018), Q2 income (P = 0.012), and having Medicaid/Medicare coverage (P = 0.021). Medicaid/Medicare coverage was the only factor associated with acute hydrops (P < 0.001), and younger age was the only factor associated with disease progression (P < 0.001). Younger patients and patients with commercial insurance coverage were more likely to receive corneal collagen cross-linking (P < 0.001 and P < 0.001, respectively), whereas patients with Medicaid/Medicare coverage, lowest income, and non-White race were more likely to receive corneal transplantation (P = 0.012, P = 0.062, and P = 0.028, respectively). Medicaid/Medicare was the only factor associated with delay in receiving corneal collagen cross-linking (P = 0.013).

Conclusions: Our study demonstrates that there are sociodemographic predictors of keratoconus disease severity, progression, and the type and the time of treatment the patients received. This confirms eye health disparities among patients with keratoconus.

目的:在纽约市大都会地区的一家三级眼科医疗机构中,确定预测角膜炎严重程度、病情发展、疾病结果和适当管理的社会人口因素:这是一项回顾性病历审查。方法:这是一项回顾性病历审查,纳入了 2015 年至 2022 年期间在一家城市三级眼科研究所就诊的角膜炎患者。记录的社会人口学数据包括年龄、性别、种族、民族、来自邮政编码的收入、保险范围和首选语言。对这些社会人口学因素进行了分析,以预测就诊时角膜病的严重程度(Amsler-Krumeich III 级和 IV 级):出现急性角膜积水的患者、接受角膜交联或角膜移植的患者、随访期间 Kmax 上升 1 个或 1 个以上斜度的患者,以及从医生建议角膜交联到手术时间较长的患者:这项回顾性研究共纳入了 634 名临床诊断为角膜炎的患者。在多变量分析中,与发病时严重角膜炎相关的因素有:非白人(P < 0.001)、最低收入(Q1)(P = 0.018)、Q2 收入(P = 0.012)和医疗补助/医疗保险(P = 0.021)。医疗补助/医疗保险是唯一与急性肾积水相关的因素(P < 0.001),年龄较小是唯一与疾病进展相关的因素(P < 0.001)。年轻患者和有商业保险的患者更有可能接受角膜胶原交联术(分别为 P < 0.001 和 P < 0.001),而有医疗补助/医疗保险、最低收入和非白人种族的患者更有可能接受角膜移植术(分别为 P = 0.012、P = 0.062 和 P = 0.028)。医疗补助/医疗保险是唯一与延迟接受角膜胶原交联术有关的因素(P = 0.013):我们的研究表明,社会人口学因素可预测角膜病的严重程度、病情发展以及患者接受治疗的类型和时间。这证实了角膜炎患者的眼健康存在差异。
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引用次数: 0
Vision-Related Quality of Life After Fyodorov-Zuev Keratoprosthesis in China. 中国 Fyodorov-Zuev 角膜移植术后与视力相关的生活质量。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-05 DOI: 10.1097/ICO.0000000000003739
Yan Li, Lina Mei, Deyi Zhuo, Jie Wu, Weiwei Xu, Qun Wang, Yu-Qi Wang, Manmei Li, Xiu Wang, Kexuan Feng, Cuimei Du, Huiping Feng, Yifei Huang, Liqiang Wang

Purpose: The purpose of this study was to assess vision-related quality of life (VR-QoL) and its determinants in patients with implanted Fyodorov-Zuev (MICOF) KPro.

Methods: Eighty-eight patients with bilateral corneal blindness who underwent unilateral Fyodorov-Zuev (MICOF) KPro implantation were included in this cross-sectional study. VR-QoL was assessed using the National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25). Univariate analyses and multivariate linear regression were used to identify VR-QoL determinants.

Results: Eighty-eight patients, aged 50.00 ± 13.72 years, with a mean postoperative time of 5.13 ± 3.31 years, were included. The composite NEI-VFQ-25 score improved from 17.04 ± 5.60 to 46.00 ± 19.21 (P < 0.01) after Fyodorov-Zuev (MICOF) KPro implantation. The multivariate linear regression analysis results showed that the postoperative composite score was correlated with postoperative visual acuity (VA) of the operative eye (B = -21.66, P < 0.01). Improvement in NEI-VFQ scores was associated with better postoperative VA of the operative eye (B = -18.67, P < 0.01) and poorer preoperative VA of the fellow eye (B = 7.11, P < 0.05).

Conclusion: VR-QoL in patients with bilateral corneal blindness was significantly impaired but improved after Fyodorov-Zuev (MICOF) KPro implantation. Improvement in VR-QoL was inversely associated with postoperative VA of the operative eye but positively correlated with preoperative VA of the fellow eye. This study affirmed that Fyodorov-Zuev (MICOF) KPro was an effective alternative for patients with corneal blindness with respect to VR-QoL.

目的:本研究旨在评估 Fyodorov-Zuev (MICOF) KPro 植入患者与视力相关的生活质量(VR-QoL)及其决定因素:这项横断面研究纳入了88名接受单侧Fyodorov-Zuev(MICOF)KPro植入手术的双侧角膜盲患者。VR-QoL 采用美国国家眼科研究所视觉功能问卷-25(NEI-VFQ-25)进行评估。采用单变量分析和多变量线性回归来确定VR-QoL的决定因素:结果:共纳入 88 名患者,年龄(50.00±13.72)岁,平均术后时间(5.13±3.31)年。Fyodorov-Zuev (MICOF) KPro 植入术后,NEI-VFQ-25 综合评分从 17.04 ± 5.60 提高到 46.00 ± 19.21(P < 0.01)。多变量线性回归分析结果显示,术后综合评分与手术眼术后视力(VA)相关(B = -21.66,P < 0.01)。NEI-VFQ评分的改善与手术眼术后视力较好(B = -18.67,P <0.01)和术前同侧眼视力较差(B = 7.11,P <0.05)相关:结论:双侧角膜失明患者的视功能-生活质量明显受损,但在 Fyodorov-Zuev (MICOF) KPro 植入术后有所改善。VR-QoL的改善与手术眼的术后视力成反比,但与同侧眼的术前视力成正比。这项研究证实,Fyodorov-Zuev(MICOF)KPro 是角膜盲症患者改善 VR-QoL 的有效选择。
{"title":"Vision-Related Quality of Life After Fyodorov-Zuev Keratoprosthesis in China.","authors":"Yan Li, Lina Mei, Deyi Zhuo, Jie Wu, Weiwei Xu, Qun Wang, Yu-Qi Wang, Manmei Li, Xiu Wang, Kexuan Feng, Cuimei Du, Huiping Feng, Yifei Huang, Liqiang Wang","doi":"10.1097/ICO.0000000000003739","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003739","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to assess vision-related quality of life (VR-QoL) and its determinants in patients with implanted Fyodorov-Zuev (MICOF) KPro.</p><p><strong>Methods: </strong>Eighty-eight patients with bilateral corneal blindness who underwent unilateral Fyodorov-Zuev (MICOF) KPro implantation were included in this cross-sectional study. VR-QoL was assessed using the National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25). Univariate analyses and multivariate linear regression were used to identify VR-QoL determinants.</p><p><strong>Results: </strong>Eighty-eight patients, aged 50.00 ± 13.72 years, with a mean postoperative time of 5.13 ± 3.31 years, were included. The composite NEI-VFQ-25 score improved from 17.04 ± 5.60 to 46.00 ± 19.21 (P < 0.01) after Fyodorov-Zuev (MICOF) KPro implantation. The multivariate linear regression analysis results showed that the postoperative composite score was correlated with postoperative visual acuity (VA) of the operative eye (B = -21.66, P < 0.01). Improvement in NEI-VFQ scores was associated with better postoperative VA of the operative eye (B = -18.67, P < 0.01) and poorer preoperative VA of the fellow eye (B = 7.11, P < 0.05).</p><p><strong>Conclusion: </strong>VR-QoL in patients with bilateral corneal blindness was significantly impaired but improved after Fyodorov-Zuev (MICOF) KPro implantation. Improvement in VR-QoL was inversely associated with postoperative VA of the operative eye but positively correlated with preoperative VA of the fellow eye. This study affirmed that Fyodorov-Zuev (MICOF) KPro was an effective alternative for patients with corneal blindness with respect to VR-QoL.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
A Novel Artificial Endothelial Replacement Membrane for the Treatment of Chronic Corneal Edema. 用于治疗慢性角膜水肿的新型人工内皮替代膜。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-05 DOI: 10.1097/ICO.0000000000003734
Ofer Daphna, Gerd U Auffarth, Ruth Lapid-Gortzak, Sunita Chaurasia, Efrat Gilboa, Anat Lemze, Michael Dover, Arie L Marcovich

Purpose: The purpose of this study was to report the safety and efficacy results of an artificial lamellar implant for the treatment of chronic corneal edema.

Methods: The EndoArt (EyeYon Medical, Ness Ziona, Israel), an artificial endothelial replacement membrane designed to treat corneal edema, was implanted in 24 eyes of 24 patients with low-to-normal visual potential. We present the safety and efficacy results from a prospective, open-label, single-arm, multicenter study conducted over a 12-month period.

Results: Twenty-four patients were enrolled, with no device-related serious adverse events reported. Seventeen patients completed 12-month follow-up, showing a reduction in average central corneal thickness from 759 ± 116 μm to 613 ± 135 μm. Best-corrected distance visual acuity improved from 1.88 ± 0.79 logarithmic minimum angle of resolution (logMAR) to 1.34 ± 0.57 logMAR. Sixty percent gained at least 3 early treatment diabetic retinopathy study (ETDRS) lines. The EndoArt was removed in 5 cases due to incomplete attachment and replaced by corneal transplants; 1 patient was lost to follow-up, and 1 had a procedure failure. No device-related long-term complications, infections, or inflammations were reported. The implants remained transparent throughout the study.

Conclusions: The first-in-human results of EndoArt implantation demonstrated the device's potential to treat patients suffering from corneal edema with a favorable safety profile and effective edema reduction in most subjects, with no device-related serious adverse event. The EndoArt may offer a viable solution in regions facing a shortage of donor corneas, as well as for patients who have poor prognosis with human tissue.

目的:本研究旨在报告人工板层植入治疗慢性角膜水肿的安全性和有效性结果:方法:在 24 位低度至正常视力患者的 24 只眼睛中植入 EndoArt(EyeYon Medical,以色列 Ness Ziona),这是一种用于治疗角膜水肿的人工内皮替代膜。我们介绍了一项为期 12 个月的前瞻性、开放标签、单臂、多中心研究的安全性和有效性结果:结果:共有 24 名患者入组,未报告与设备相关的严重不良事件。17 名患者完成了为期 12 个月的随访,结果显示角膜中央平均厚度从 759 ± 116 μm 降至 613 ± 135 μm。最佳矫正距离视力从 1.88 ± 0.79 对数最小分辨角(logMAR)提高到 1.34 ± 0.57 对数最小分辨角。60%的患者获得了至少3条早期治疗糖尿病视网膜病变研究(ETDRS)线。有5例患者因EndoArt不完全附着而被移除,改为角膜移植;1例患者失去随访机会,1例患者手术失败。没有出现与设备相关的长期并发症、感染或炎症。在整个研究过程中,植入体始终保持透明:EndoArt的首次人体植入结果表明,该设备具有治疗角膜水肿患者的潜力,其安全性良好,大多数受试者的水肿都得到了有效缓解,而且没有发生与设备相关的严重不良事件。EndoArt 可为缺少供体角膜的地区以及使用人体组织预后不佳的患者提供可行的解决方案。
{"title":"A Novel Artificial Endothelial Replacement Membrane for the Treatment of Chronic Corneal Edema.","authors":"Ofer Daphna, Gerd U Auffarth, Ruth Lapid-Gortzak, Sunita Chaurasia, Efrat Gilboa, Anat Lemze, Michael Dover, Arie L Marcovich","doi":"10.1097/ICO.0000000000003734","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003734","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to report the safety and efficacy results of an artificial lamellar implant for the treatment of chronic corneal edema.</p><p><strong>Methods: </strong>The EndoArt (EyeYon Medical, Ness Ziona, Israel), an artificial endothelial replacement membrane designed to treat corneal edema, was implanted in 24 eyes of 24 patients with low-to-normal visual potential. We present the safety and efficacy results from a prospective, open-label, single-arm, multicenter study conducted over a 12-month period.</p><p><strong>Results: </strong>Twenty-four patients were enrolled, with no device-related serious adverse events reported. Seventeen patients completed 12-month follow-up, showing a reduction in average central corneal thickness from 759 ± 116 μm to 613 ± 135 μm. Best-corrected distance visual acuity improved from 1.88 ± 0.79 logarithmic minimum angle of resolution (logMAR) to 1.34 ± 0.57 logMAR. Sixty percent gained at least 3 early treatment diabetic retinopathy study (ETDRS) lines. The EndoArt was removed in 5 cases due to incomplete attachment and replaced by corneal transplants; 1 patient was lost to follow-up, and 1 had a procedure failure. No device-related long-term complications, infections, or inflammations were reported. The implants remained transparent throughout the study.</p><p><strong>Conclusions: </strong>The first-in-human results of EndoArt implantation demonstrated the device's potential to treat patients suffering from corneal edema with a favorable safety profile and effective edema reduction in most subjects, with no device-related serious adverse event. The EndoArt may offer a viable solution in regions facing a shortage of donor corneas, as well as for patients who have poor prognosis with human tissue.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Keratometry Changes Between Year One to Seven After Corneal Cross-Linking in Patients With Keratoconus. 角膜屈光不正患者角膜交联术后第一年到第七年的角膜测量变化。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2024-01-30 DOI: 10.1097/ICO.0000000000003478
Lukas Neuhann, Diana Vogel, Jonathan Hall, Jens Dreyhaupt, Jens Ulrich Werner, Aylin Garip-Kuebler, Christian Enders

Purpose: We evaluated the timing at and extent to which midterm to long-term keratometric changes can occur in year 1 to 7 after corneal collagen cross-linking (CXL) in patients with keratoconus.

Methods: We conducted a subgroup analysis of a retrospective cohort study of all consecutive patients who underwent CXL at our cornea center between 2007 and 2011. The inclusion criteria comprised CXL according to the Dresden protocol and a full set of keratometry parameters collected by Scheimpflug tomography preoperatively and at year 1, 3, 5, and 7 after CXL. In addition, best-corrected visual acuity was evaluated.

Results: Sixty-three eyes of 47 patients were enrolled. Mean age was 25.46 years ±7.39 years (80.9% male patients). All relevant keratometric parameters showed significant improvement at year 1 after CXL (except for posterior astigmatism). According to mixed-effects model analysis, they all showed further significant change at different points in time between year 1, 3, 5, and 7 (except for K1). In addition, best-corrected visual acuity improved statistically significant between year 1, 3, 5, and 7. Suspected disease progression was noted in 22.2% of patients, mostly between year 1 and 3 after CXL.

Conclusions: After initial improvement 1 year after CXL, keratometric and functional parameters were stable until year 5 after CXL in most cases; further improvement can take place even after up to 7 years post-CXL. By contrast, in case of disease progression, changes seem to occur already between year 1 and 3 after CXL.

目的:我们评估了角膜炎患者角膜胶原交联术(CXL)后第 1-7 年发生中长期角膜测量变化的时间和程度:我们对 2007 年至 2011 年期间在角膜中心接受 CXL 治疗的所有连续患者进行了回顾性队列研究的亚组分析。纳入标准包括根据德累斯顿方案进行的 CXL,以及术前和 CXL 后第 1、3、5 和 7 年通过 Scheimpflug 层析成像采集的全套角膜测量参数。此外,还对最佳矫正视力进行了评估:结果:47 名患者的 63 只眼睛入选。平均年龄为 25.46 岁 ±7.39 岁(男性患者占 80.9%)。所有相关的角膜参数在 CXL 后第一年均有明显改善(后散光除外)。根据混合效应模型分析,这些参数在第 1 年、第 3 年、第 5 年和第 7 年之间的不同时间点均有进一步的显著变化(K1 除外)。此外,最佳矫正视力在第 1 年、第 3 年、第 5 年和第 7 年之间也有显著的统计学改善。22.2%的患者疑似病情恶化,大部分发生在 CXL 治疗后的第 1 年和第 3 年之间:结论:CXL术后1年,大多数患者的角膜度数和功能参数得到初步改善,但直到CXL术后第5年,角膜度数和功能参数仍保持稳定;甚至在CXL术后7年,患者的角膜度数和功能参数仍会进一步改善。相比之下,在疾病进展的情况下,CXL 术后第 1 年至第 3 年似乎已经发生了变化。
{"title":"Keratometry Changes Between Year One to Seven After Corneal Cross-Linking in Patients With Keratoconus.","authors":"Lukas Neuhann, Diana Vogel, Jonathan Hall, Jens Dreyhaupt, Jens Ulrich Werner, Aylin Garip-Kuebler, Christian Enders","doi":"10.1097/ICO.0000000000003478","DOIUrl":"10.1097/ICO.0000000000003478","url":null,"abstract":"<p><strong>Purpose: </strong>We evaluated the timing at and extent to which midterm to long-term keratometric changes can occur in year 1 to 7 after corneal collagen cross-linking (CXL) in patients with keratoconus.</p><p><strong>Methods: </strong>We conducted a subgroup analysis of a retrospective cohort study of all consecutive patients who underwent CXL at our cornea center between 2007 and 2011. The inclusion criteria comprised CXL according to the Dresden protocol and a full set of keratometry parameters collected by Scheimpflug tomography preoperatively and at year 1, 3, 5, and 7 after CXL. In addition, best-corrected visual acuity was evaluated.</p><p><strong>Results: </strong>Sixty-three eyes of 47 patients were enrolled. Mean age was 25.46 years ±7.39 years (80.9% male patients). All relevant keratometric parameters showed significant improvement at year 1 after CXL (except for posterior astigmatism). According to mixed-effects model analysis, they all showed further significant change at different points in time between year 1, 3, 5, and 7 (except for K1). In addition, best-corrected visual acuity improved statistically significant between year 1, 3, 5, and 7. Suspected disease progression was noted in 22.2% of patients, mostly between year 1 and 3 after CXL.</p><p><strong>Conclusions: </strong>After initial improvement 1 year after CXL, keratometric and functional parameters were stable until year 5 after CXL in most cases; further improvement can take place even after up to 7 years post-CXL. By contrast, in case of disease progression, changes seem to occur already between year 1 and 3 after CXL.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"1397-1402"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139641770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Ophthalmologic Symptoms in a Patient With Autosomal Dominant Multicentric Carpotarsal Osteolysis. 常染色体显性多中心腕骨骨溶解症患者的眼科症状:病例报告。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2024-08-13 DOI: 10.1097/ICO.0000000000003670
Jeffrey Nijs, Valérie Debeuf, Jan Van Eijgen, Heleen Delbeke

Purpose: The purpose of this case report was to provide a detailed description of the ocular manifestations, in a patient with multicentric carpotarsal osteolysis (MCTO), with particular emphasis on bilateral corneal opacities.

Methods: A 43-year-old woman with a history of MCTO was followed with visual acuity assessment and slit-lamp examination at the Department of Ophthalmology in the University Hospitals of Leuven.

Results: The patient was found to have bilateral subepithelial haze, along with anterior stromal corneal opacities, and small central lens opacities upon examination. There was a slight corneal thickening. A progression of the corneal opacities was observed, without a further drop in visual acuity.

Conclusions: This case report shows a rare association between MCTO and corneal opacities in adulthood. Interdisciplinary care involving an ophthalmologist is beneficiary for patients with MCTO.

目的:本病例报告旨在详细描述一名多中心腕骨溶解症(MCTO)患者的眼部表现,重点是双侧角膜混浊:方法:鲁汶大学医院眼科对一名有多中心腕跗骨溶解症病史的 43 岁女性患者进行了视力评估和裂隙灯检查:检查发现患者双侧角膜上皮下混浊、前基质角膜混浊和中央晶状体小混浊。角膜略有增厚。观察到角膜混浊在发展,但视力没有进一步下降:本病例报告显示,MCTO 与成年期角膜混浊之间存在罕见的关联。有眼科医生参与的跨学科治疗对 MCTO 患者非常有益。
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引用次数: 0
Effect of Anterior Chamber Air on Central Corneal Thickness in Human Donor Eyes. 前房空气对人体捐献眼角膜中央厚度的影响
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2023-12-20 DOI: 10.1097/ICO.0000000000003457
Marcela Huertas-Bello, Christopher W Seery, Karen Sem, Elizabeth Fout, Concetta Triglia, Allen O Eghrari, Ellen H Koo

Purpose: The purpose of this study was to describe the effects of intracameral air on corneal edema.

Methods: A laboratory investigation was performed on human donor corneas. Baseline pachymetry measurements through anterior segment optical coherence tomography and endothelial cell density were obtained for all corneas. Each pair of corneas was separated and randomly assigned to undergo air injection or Optisol-GS into a BIONIKO artificial anterior chamber for 5 minutes at physiologic intraocular pressure confirmed by digital palpation. Photographs were obtained immediately on connection of the cornea to the artificial anterior chamber and on completion of the 5 minutes of treatment, with anterior chamber air being exchanged for Optisol-GS. Pretreatment and posttreatment photographs were obtained. Immediately after treatment, pachymetry was again obtained on all corneas. Pachymetry data underwent statistical analysis.

Results: Corneal pachymetry improved from 690.5 ± 126.6 to 576.1 ± 87.2 μm, yielding a 114.4 ± 50.4 μm improvement of pachymetry in the group with air injected into the anterior chamber. This was a significant improvement of pachymetry when compared with the group with Optisol-GS injected into the anterior chamber, which showed an improvement from 662.3 ± 126.5 to 613.5 ± 108.0 μm, yielding an improvement of 48.8 ± 34.3 μm.

Conclusions: Injection of air into the anterior chamber leads to a significant decrease in corneal pachymetry. We thereby propose that injecting air intracamerally is an effective intraoperative intervention when visualization is negatively affected by corneal edema.

目的:本研究旨在描述巩膜内空气对角膜水肿的影响:方法:对人体捐献的角膜进行实验室调查。通过前段光学相干断层扫描和内皮细胞密度获得了所有角膜的基线厚度测量值。将每对角膜分开并随机分配到 BIONIKO 人工前房中注入空气或 Optisol-GS,持续 5 分钟,并通过数字触诊确认生理眼压。角膜与人工前房连接后立即拍照,5 分钟治疗结束后将前房空气换成 Optisol-GS。 获得治疗前和治疗后的照片。治疗结束后,立即再次对所有角膜进行测距。对测距数据进行统计分析:角膜厚度从 690.5 ± 126.6 μm 降至 576.1 ± 87.2 μm,前房注入空气组的角膜厚度提高了 114.4 ± 50.4 μm。与在前房注入 Optisol-GS 的组别相比,前房厚度有了明显改善,前房厚度从 662.3 ± 126.5 μm 改善到 613.5 ± 108.0 μm,改善幅度为 48.8 ± 34.3 μm:结论:前房注入空气会导致角膜厚度显著下降。因此我们认为,当角膜水肿对视觉造成负面影响时,在角膜内注入空气是一种有效的术中干预措施。
{"title":"Effect of Anterior Chamber Air on Central Corneal Thickness in Human Donor Eyes.","authors":"Marcela Huertas-Bello, Christopher W Seery, Karen Sem, Elizabeth Fout, Concetta Triglia, Allen O Eghrari, Ellen H Koo","doi":"10.1097/ICO.0000000000003457","DOIUrl":"10.1097/ICO.0000000000003457","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to describe the effects of intracameral air on corneal edema.</p><p><strong>Methods: </strong>A laboratory investigation was performed on human donor corneas. Baseline pachymetry measurements through anterior segment optical coherence tomography and endothelial cell density were obtained for all corneas. Each pair of corneas was separated and randomly assigned to undergo air injection or Optisol-GS into a BIONIKO artificial anterior chamber for 5 minutes at physiologic intraocular pressure confirmed by digital palpation. Photographs were obtained immediately on connection of the cornea to the artificial anterior chamber and on completion of the 5 minutes of treatment, with anterior chamber air being exchanged for Optisol-GS. Pretreatment and posttreatment photographs were obtained. Immediately after treatment, pachymetry was again obtained on all corneas. Pachymetry data underwent statistical analysis.</p><p><strong>Results: </strong>Corneal pachymetry improved from 690.5 ± 126.6 to 576.1 ± 87.2 μm, yielding a 114.4 ± 50.4 μm improvement of pachymetry in the group with air injected into the anterior chamber. This was a significant improvement of pachymetry when compared with the group with Optisol-GS injected into the anterior chamber, which showed an improvement from 662.3 ± 126.5 to 613.5 ± 108.0 μm, yielding an improvement of 48.8 ± 34.3 μm.</p><p><strong>Conclusions: </strong>Injection of air into the anterior chamber leads to a significant decrease in corneal pachymetry. We thereby propose that injecting air intracamerally is an effective intraoperative intervention when visualization is negatively affected by corneal edema.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"1355-1360"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138828605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Corneal Transplant Rejection Postvaccination Among Medicare Beneficiaries. 医疗保险受益人接种疫苗后的角膜移植排斥反应。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2024-03-05 DOI: 10.1097/ICO.0000000000003524
Muhammad Ali, Chen Dun, Gayane Yenokyan, Uri Soiberman, Bennie H Jeng, Martin A Makary, Fasika Woreta, Divya Srikumaran

Purpose: The purpose of this study was to describe the incidence of corneal graft rejection after COVID and influenza vaccination.

Methods: Patients 65 years or older undergoing penetrating keratoplasty or endothelial keratoplasty any time between 2016 and 2021 followed by COVID or influenza vaccination in 2021 among the 100% Medicare Fee-For-Service database were included. Demographic and ocular history characteristics of patients with (cases) and without graft rejection (controls) were compared using the χ 2 test.

Results: After COVID (n = 31,398) and influenza (n = 24,290) vaccination, 0.45% (n = 140) and 0.17% (n = 41) patients developed rejection within 90 days, respectively. There was no difference in the rate of graft rejection within 90 days relative to 90 to 180 days after vaccination after both COVID (90 days: 0.45% vs. 180 days: 0.61%, P = 0.37) and influenza (90 days: 0.17% vs. 180 days: 0.29%, P = 0.11) vaccines. For COVID vaccination, patients who underwent penetrating keratoplasty (n = 51, 0.97%; vs. endothelial keratoplasty = 89; 0.34%, P < 0.001), history of rejection up to 1 year before vaccination (n = 13; 1.30% vs. no history = 127, 0.42%; P < 0.001), and having an ocular comorbidity (n = 110, 0.54% vs. no ocular comorbidity = 30, 0.27%; P = 0.001) had higher rates of graft rejections, and most rejections were after 1 year postkeratoplasty (87.14%, n = 122).

Conclusions: The incidence of graft rejection postvaccination is low compared with the overall rates of rejection in the published literature. Most post-COVID vaccination graft rejections were after 1 year postkeratoplasty when corticosteroids are expected to have been tapered to lower doses. Surgeons may counsel patients regarding graft rejection symptoms, but overall low rates may not warrant pretreatment in low-risk keratoplasty patients.

目的:本研究旨在描述接种 COVID 和流感疫苗后角膜移植排斥反应的发生率:方法:纳入 100%医疗保险收费服务数据库中在 2016 年至 2021 年间任何时间接受穿透性角膜移植术或内皮角膜移植术,并在 2021 年接种 COVID 或流感疫苗的 65 岁或以上患者。采用χ2检验比较了有移植物排斥反应的患者(病例)和无移植物排斥反应的患者(对照)的人口统计学特征和眼部病史特征:结果:接种COVID(31,398人)和流感(24,290人)疫苗后,分别有0.45%(140人)和0.17%(41人)的患者在90天内出现排斥反应。接种 COVID 疫苗(90 天:0.45% 对 180 天:0.61%,P = 0.37)和流感疫苗(90 天:0.17% 对 180 天:0.29%,P = 0.11)后,90 天内发生移植物排斥反应的比例与接种后 90 天至 180 天内发生排斥反应的比例没有差异。对于 COVID 疫苗接种,接受过穿透性角膜成形术(n = 51,0.97%;vs. 内皮性角膜成形术 = 89;0.34%,P < 0.001)、接种前 1 年内有排斥史(n = 13;1.30% vs. 无排斥史 = 127,0.42%;P < 0.001)、有眼部合并症(n = 110,0.54% vs. 无眼部合并症 = 30,0.27%;P = 0.001)的移植排斥率较高,且大多数排斥发生在角膜移植术后 1 年之后(87.14%,n = 122):结论:与已发表文献中的总体排斥率相比,接种疫苗后的移植物排斥发生率较低。大多数接种COVID疫苗后的移植物排斥反应发生在角膜移植术后1年之后,此时皮质类固醇的剂量预计会逐渐减少。外科医生可就移植物排斥症状向患者提供咨询,但总体而言,低风险角膜移植患者无需进行预处理。
{"title":"Corneal Transplant Rejection Postvaccination Among Medicare Beneficiaries.","authors":"Muhammad Ali, Chen Dun, Gayane Yenokyan, Uri Soiberman, Bennie H Jeng, Martin A Makary, Fasika Woreta, Divya Srikumaran","doi":"10.1097/ICO.0000000000003524","DOIUrl":"10.1097/ICO.0000000000003524","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to describe the incidence of corneal graft rejection after COVID and influenza vaccination.</p><p><strong>Methods: </strong>Patients 65 years or older undergoing penetrating keratoplasty or endothelial keratoplasty any time between 2016 and 2021 followed by COVID or influenza vaccination in 2021 among the 100% Medicare Fee-For-Service database were included. Demographic and ocular history characteristics of patients with (cases) and without graft rejection (controls) were compared using the χ 2 test.</p><p><strong>Results: </strong>After COVID (n = 31,398) and influenza (n = 24,290) vaccination, 0.45% (n = 140) and 0.17% (n = 41) patients developed rejection within 90 days, respectively. There was no difference in the rate of graft rejection within 90 days relative to 90 to 180 days after vaccination after both COVID (90 days: 0.45% vs. 180 days: 0.61%, P = 0.37) and influenza (90 days: 0.17% vs. 180 days: 0.29%, P = 0.11) vaccines. For COVID vaccination, patients who underwent penetrating keratoplasty (n = 51, 0.97%; vs. endothelial keratoplasty = 89; 0.34%, P < 0.001), history of rejection up to 1 year before vaccination (n = 13; 1.30% vs. no history = 127, 0.42%; P < 0.001), and having an ocular comorbidity (n = 110, 0.54% vs. no ocular comorbidity = 30, 0.27%; P = 0.001) had higher rates of graft rejections, and most rejections were after 1 year postkeratoplasty (87.14%, n = 122).</p><p><strong>Conclusions: </strong>The incidence of graft rejection postvaccination is low compared with the overall rates of rejection in the published literature. Most post-COVID vaccination graft rejections were after 1 year postkeratoplasty when corticosteroids are expected to have been tapered to lower doses. Surgeons may counsel patients regarding graft rejection symptoms, but overall low rates may not warrant pretreatment in low-risk keratoplasty patients.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"1392-1396"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140058843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Clinical Outcomes and Indications of In-Office Sutureless Dried Gamma Ray-Sterilized Human Amniotic Membrane Transplantation With Bandage Contact Lenses in Various Ocular Surface Disorders. 无缝线伽马射线灭菌干燥人羊膜移植与绷带隐形眼镜在各种眼表疾病中的临床效果和适应症。
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2024-02-29 DOI: 10.1097/ICO.0000000000003491
Kyu Seong Jo, Kook Young Kim, Yong Woo Lee, Sang Beom Han, Chul Young Choi

Purpose: The purpose of this study was to investigate the efficacy and indications of using dried gamma ray-sterilized amniotic membrane (AM) transplantation with bandage contact lenses for the in-office sutureless treatment of various ocular surface diseases.

Methods: This study retrospectively included 56 eyes of 52 patients with various ocular surface diseases treated with sutureless dehydrated AM-assisted therapeutic contact lenses. The patients were followed up and assessed 1, 2, and 4 weeks after the treatment, and the therapeutic contact lenses were removed after 1 or 2 weeks. The size of the corneal lesion and the degree of pain experienced by each patient before and after the procedure were measured. Corneal re-epithelization rate and clinical aspects related to re-epithelialization were evaluated.

Results: Complete corneal re-epithelialization of the epithelial defect was observed in 40 eyes. The complete re-epithelialization rates of persistent epithelial defect caused by infectious ulcers, neurotrophic ulcers, ulcers due to burn, toxic keratopathy, previous penetrating keratoplasty or other corneal surgeries, and severe dry eye disease were 69.2%, 80.0%, 77.8%, 100%, 75.0%, and 100%, respectively. Five patients with uncontrolled infectious ulcers, neurotrophic ulcer, bullous keratopathy, and ulcers associated with rheumatic disease did not show significant improvement. Patient pain scores significantly decreased after the procedure.

Conclusions: Dehydrated AM transplantation with a bandage contact lens is minimally invasive and easily applicable through in-office procedures. This approach is expected to be more actively applied in various ocular surface disorders, not only in severe corneal diseases but also in relatively mild corneal surface diseases.

目的:本研究旨在探讨使用经伽马射线灭菌的干燥羊膜(AM)移植绷带式隐形眼镜在诊室内无缝线治疗各种眼表疾病的疗效和适应症:本研究回顾性地纳入了 52 名患有各种眼表疾病的患者的 56 只眼睛,这些患者均接受了无缝合脱水 AM 辅助治疗性隐形眼镜的治疗。治疗后 1、2 和 4 周对患者进行随访和评估,1 或 2 周后摘除治疗性隐形眼镜。测量了每位患者角膜病变的大小以及治疗前后的疼痛程度。对角膜再上皮率和与角膜再上皮相关的临床方面进行了评估:结果:40 只眼睛的角膜上皮缺损完全重新上皮。由感染性溃疡、神经营养性溃疡、烧伤引起的溃疡、中毒性角膜病、曾接受过穿透性角膜移植术或其他角膜手术以及严重干眼症引起的持续性上皮缺损的完全再上皮化率分别为 69.2%、80.0%、77.8%、100%、75.0% 和 100%。5名感染性溃疡、神经营养性溃疡、大疱性角膜病和风湿病相关溃疡患者的病情没有明显改善。术后患者的疼痛评分明显下降:使用绷带隐形眼镜进行脱水 AM 移植是一种微创手术,可在诊室内轻松完成。这种方法有望更积极地应用于各种眼表疾病,不仅适用于严重的角膜疾病,也适用于相对轻微的角膜表面疾病。
{"title":"Clinical Outcomes and Indications of In-Office Sutureless Dried Gamma Ray-Sterilized Human Amniotic Membrane Transplantation With Bandage Contact Lenses in Various Ocular Surface Disorders.","authors":"Kyu Seong Jo, Kook Young Kim, Yong Woo Lee, Sang Beom Han, Chul Young Choi","doi":"10.1097/ICO.0000000000003491","DOIUrl":"10.1097/ICO.0000000000003491","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to investigate the efficacy and indications of using dried gamma ray-sterilized amniotic membrane (AM) transplantation with bandage contact lenses for the in-office sutureless treatment of various ocular surface diseases.</p><p><strong>Methods: </strong>This study retrospectively included 56 eyes of 52 patients with various ocular surface diseases treated with sutureless dehydrated AM-assisted therapeutic contact lenses. The patients were followed up and assessed 1, 2, and 4 weeks after the treatment, and the therapeutic contact lenses were removed after 1 or 2 weeks. The size of the corneal lesion and the degree of pain experienced by each patient before and after the procedure were measured. Corneal re-epithelization rate and clinical aspects related to re-epithelialization were evaluated.</p><p><strong>Results: </strong>Complete corneal re-epithelialization of the epithelial defect was observed in 40 eyes. The complete re-epithelialization rates of persistent epithelial defect caused by infectious ulcers, neurotrophic ulcers, ulcers due to burn, toxic keratopathy, previous penetrating keratoplasty or other corneal surgeries, and severe dry eye disease were 69.2%, 80.0%, 77.8%, 100%, 75.0%, and 100%, respectively. Five patients with uncontrolled infectious ulcers, neurotrophic ulcer, bullous keratopathy, and ulcers associated with rheumatic disease did not show significant improvement. Patient pain scores significantly decreased after the procedure.</p><p><strong>Conclusions: </strong>Dehydrated AM transplantation with a bandage contact lens is minimally invasive and easily applicable through in-office procedures. This approach is expected to be more actively applied in various ocular surface disorders, not only in severe corneal diseases but also in relatively mild corneal surface diseases.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"1383-1391"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139995819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis. 伴有角膜淀粉样变性的新型症状性卵磷脂胆固醇酰基转移酶基因突变
IF 1.9 3区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-11-01 Epub Date: 2024-08-22 DOI: 10.1097/ICO.0000000000003671
Yaser Abu Dail, Elias Flockerzi, Fidelis Flockerzi, Mario Matthaei, Claus Cursiefen, Berthold Seitz

Purpose: To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.

Methods: Case report.

Results: A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years. The patient had undergone penetrating keratoplasty (PKP) on the right eye 6 years ago. Ophthalmologic examination revealed decreased VA in both eyes (OD: 0.05, OS: 0.3), and even further reduced glare VA (OD: 0.05, OS: 0.1), diffuse whitish corneal opacity involving the total thickness of the corneal stroma without crystalline deposits, and a marked peripheral diffuse arcus. Systemic examination revealed severely reduced plasma high-density lipoprotein cholesterol levels, target cells in blood smear, and chronic normochromic anemia. Clinically, LCAT deficiency was the most likely diagnosis. Further genetic analysis confirmed the diagnosis. The patient is homozygous for the novel variant c.943T>C (p.Trp315Arg) in the LCAT gene. Histologic examination of the cornea removed during the first keratoplasty revealed amyloid deposits. The cornea removed at the second keratoplasty had small vacuoles in the anterior stroma, indicating recurrence of lipid deposition.

Conclusions: LCAT deficiency is a rare genetic disorder that can cause corneal opacities because of lipid deposition in the cornea. Systemic manifestations may help in the differential diagnosis to other diseases associated with severe high-density lipoprotein cholesterol reduction. Genetic analysis is employed to confirm the diagnosis. Some mutations in the LCAT gene seem to be associated with secondary corneal amyloidosis. Further investigation of this association is warranted. A recurrence of corneal opacity after PKP seems to occur mainly in the anterior corneal stroma.

目的:介绍一名家族性卵磷脂-胆固醇酰基转移酶(LCAT)缺乏症患者的眼部临床、组织学、全身和遗传学检查结果,该患者是由LCAT基因的新型遗传变异引起的,并伴有继发性角膜淀粉样变性:病例报告:一名 74 岁的女性患者出现视力下降、对光敏感以及双侧角膜逐渐变白的症状约 20 年。6 年前,患者右眼接受了穿透性角膜移植术(PKP)。眼科检查发现,双眼视力下降(OD:0.05,OS:0.3),眩光下视力甚至进一步下降(OD:0.05,OS:0.1),弥漫性角膜白翳涉及角膜基质的总厚度,无晶体沉积,周边弥漫性弧度明显。全身检查发现,血浆中高密度脂蛋白胆固醇水平严重降低,血涂片中有靶细胞,并伴有慢性正色素性贫血。从临床上看,LCAT 缺乏症是最有可能的诊断。进一步的基因分析证实了这一诊断。患者是 LCAT 基因新型变体 c.943T>C (p.Trp315Arg) 的同卵双生者。第一次角膜移植手术中取出的角膜经组织学检查发现有淀粉样蛋白沉积。第二次角膜移植手术中取出的角膜前基质中有小空泡,表明脂质沉积再次出现:结论:LCAT 缺乏症是一种罕见的遗传性疾病,可因角膜脂质沉积而导致角膜翳。全身表现可能有助于与其他与高密度脂蛋白胆固醇严重降低有关的疾病进行鉴别诊断。基因分析可用于确诊。LCAT 基因的某些突变似乎与继发性角膜淀粉样变性有关。有必要对这种关联性进行进一步研究。PKP 术后角膜混浊复发似乎主要发生在角膜前基质层。
{"title":"A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.","authors":"Yaser Abu Dail, Elias Flockerzi, Fidelis Flockerzi, Mario Matthaei, Claus Cursiefen, Berthold Seitz","doi":"10.1097/ICO.0000000000003671","DOIUrl":"10.1097/ICO.0000000000003671","url":null,"abstract":"<p><strong>Purpose: </strong>To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years. The patient had undergone penetrating keratoplasty (PKP) on the right eye 6 years ago. Ophthalmologic examination revealed decreased VA in both eyes (OD: 0.05, OS: 0.3), and even further reduced glare VA (OD: 0.05, OS: 0.1), diffuse whitish corneal opacity involving the total thickness of the corneal stroma without crystalline deposits, and a marked peripheral diffuse arcus. Systemic examination revealed severely reduced plasma high-density lipoprotein cholesterol levels, target cells in blood smear, and chronic normochromic anemia. Clinically, LCAT deficiency was the most likely diagnosis. Further genetic analysis confirmed the diagnosis. The patient is homozygous for the novel variant c.943T>C (p.Trp315Arg) in the LCAT gene. Histologic examination of the cornea removed during the first keratoplasty revealed amyloid deposits. The cornea removed at the second keratoplasty had small vacuoles in the anterior stroma, indicating recurrence of lipid deposition.</p><p><strong>Conclusions: </strong>LCAT deficiency is a rare genetic disorder that can cause corneal opacities because of lipid deposition in the cornea. Systemic manifestations may help in the differential diagnosis to other diseases associated with severe high-density lipoprotein cholesterol reduction. Genetic analysis is employed to confirm the diagnosis. Some mutations in the LCAT gene seem to be associated with secondary corneal amyloidosis. Further investigation of this association is warranted. A recurrence of corneal opacity after PKP seems to occur mainly in the anterior corneal stroma.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"1427-1430"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Cornea
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