AS-OCT

AS - OCT
  • 文章类型: Journal Article
    简介在小梁切除术后的早期,监测气泡形成的过程对于评估手术成功至关重要。前段光学相干层析成像(AS-OCT)作为一种强大的工具,提供高分辨率的气泡形态和动力学成像。本研究旨在使用AS-OCT通过成熟阶段评估气泡的内部结构。方法对55例接受小梁切除术的眼睛进行前瞻性观察研究。在术后第1天,第1周,第3周和第6周进行系列AS-OCT检查;计算气泡参数并与眼压(IOP)相关。结果小梁切除术后6个月45只眼眼压得到控制。多形泡壁反射率(BWR)在统计学上与小梁切除术的成功相关。如果BWR从第1天到第6周没有变化,则Blebs是成功的。如果第1周泡壁厚度(BWT)小于129.5微米,则BWR在所有随访中保持相同,具有82.6%的灵敏度和83.3%的特异性。BWR变化的累积危险估计约为5.6%,15.7%,在第1周、第3周和第6周的随访时间为17.9%,分别。结论从随访的第1天到第6周,成功的气泡显示出一致的BWR。可以进行早期BWR变化的连续AS-OCT检查以预测气泡的命运。BWR的最大变化发生在需要密切随访的第1周和第3周随访期之间。
    Introduction In the early postoperative period following trabeculectomy, monitoring the journey of bleb formation is crucial for assessing surgical success. Anterior-segment optical coherence tomography (AS-OCT) emerges as a powerful tool in this pursuit, offering high-resolution imaging of bleb morphology and dynamics. This study aims to evaluate the internal structure of blebs through their maturation phases using AS-OCT. Methods Fifty-five eyes undergoing trabeculectomy were enrolled in a prospective observational study. Serial AS-OCT examinations were done on day 1, week 1, week 3, and week 6 postoperatively; bleb parameters were calculated and correlated with intraocular pressure (IOP). Results IOP control was seen in 45 eyes six months of post-trabeculectomy. Multiform bleb wall reflectivity (BWR) statistically correlates with the success of trabeculectomy. Blebs were successful if BWR showed no change from day 1 to week 6. BWR remained the same on all follow-ups if week 1 bleb wall thickness (BWT) was less than 129.5 microns with 82.6% sensitivity and 83.3% specificity. The cumulative hazard of change in BWR is estimated to be approximately 5.6%, 15.7%, and 17.9% at week 1, week 3, and week 6 follow-ups, respectively. Conclusions Successful blebs showed consistent BWR from day 1 to week 6 of follow-up. Serial AS-OCT examination for changes in BWR in early stages can be done to predict the fate of bleb. The maximum change in BWR occurs between the week 1 and week 3 follow-up periods requiring close follow-up.
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  • 文章类型: Journal Article
    术前评估时,必须对激光屈光手术的候选人进行Ectasia筛查。尽管有现代成像技术,当患者出现可疑的断层检查结果时,屈光外科医生通常会面临临界决策。本病例系列介绍了具有可疑断层摄影结果的屈光候选者,并演示了如何使用Scheimpflug成像和其他眼前段光学相干断层扫描(AS-OCT)来解释它们。
    眼科,大学医院,慕尼黑LMU。
    本病例系列研究了6名可能接受屈光手术的患者,平均年龄为29.2±3.9岁,其使用Scheimpflug成像的角膜评估引起了对扩张的怀疑。用AS-OCT对每个候选人进行额外检查并重新评估。平均主观球面当量为-3.67±1.8屈光度。总角膜厚度在其最薄点测量为537µm±30µm。没有候选人有任何潜在的角膜或眼科疾病的报告,裂隙灯检查未发现异常形态。
    Scheimpflug成像和AS-OCT都是筛查扩张的屈光候选者的合适工具。虽然地形和高程分析在角膜结构方面产生了可比的结果,AS-OCT提供的上皮定位在有临界层析成像结果的病例的决策中发挥了关键作用.建立关于在扩张筛查中使用上皮作图的全球共识是必要的。
    UNASSIGNED: Ectasia screening in candidates for laser refractive surgery is mandatory during preoperative evaluation. Despite the availability of modern imaging techniques, refractive surgeons often face borderline decisions when patients present with suspicious tomographic findings. This case series presents refractive candidates with suspicious tomographic findings and demonstrates how to interpret them using Scheimpflug imaging and additional anterior segment optical coherence tomography (AS-OCT).
    UNASSIGNED: Department of Ophthalmology, University Hospital, LMU Munich.
    UNASSIGNED: This case series examines six potential candidates for refractive surgery with a mean age of 29.2 ± 3.9 years, whose corneal assessments using Scheimpflug imaging raised suspicion for ectasia. Each candidate was additionally examined with AS-OCT and reevaluated. The mean manifest subjective spherical equivalent was -3.67 ± 1.8 diopters. The total corneal thickness measured 537 µm ± 30 µm at its thinnest point. None of the candidates had any reported underlying corneal or ophthalmic diseases, and slit lamp examinations revealed no abnormal morphological findings.
    UNASSIGNED: Both Scheimpflug imaging and AS-OCT are appropriate tools for screening refractive candidates for ectasia. While topographic and elevation analyses yielded comparable results regarding corneal structure, the epithelial mapping provided by AS-OCT played a critical role in decision-making for cases with borderline tomographic findings. Establishing a global consensus on the use of epithelial mapping in ectasia screening is necessary.
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  • 文章类型: Journal Article
    许多作者已经广泛研究了糖尿病与眼部并发症之间的关系。糖尿病性角膜病变已经被很好地表征和定义为临床实体。本文就糖尿病患者角膜上皮的改变作一综述,旨在提供有关该主题的现有知识的务实概述。本文系统地研究了角膜上皮结构的改变及其对糖尿病患者的影响。还讨论了先进的成像技术在精确表征和改进的诊断中的作用。此外,本文探讨了糖尿病角膜上皮改变背后的机制,看看高血糖等因素,氧化应激,和高级糖基化终产物。考虑了角膜上皮完整性改变对屏障功能和外部问题易感性的影响,解决了在糖尿病个体中观察到的与蛋白水解酶活性增强和伤口愈合延迟的潜在联系。该综述还涵盖了角膜上皮变化的实际意义,包括角膜糜烂,持续性上皮缺损,糖尿病患者干眼综合征的风险增加。
    The relationship between diabetes mellitus and ocular complications has been extensively studied by many authors. Diabetic keratopathy has already been well characterized and defined as a clinical entity. This review focuses on exploring corneal epithelial changes in diabetic patients, aiming to provide a pragmatic overview of the existing knowledge on this topic. The paper systematically examines alterations in corneal epithelial structure and their impact on diabetic patients. Advanced imaging techniques are also discussed for their role in precise characterization and improved diagnostics. Additionally, the paper explores the mechanisms behind corneal epithelial changes in diabetes, looking at factors such as hyperglycemia, oxidative stress, and Advanced Glycation End-Products. The impact of altered corneal epithelial integrity on barrier function and susceptibility to external issues is considered, addressing potential links to heightened proteolytic enzyme activities and delayed wound healing observed in diabetic individuals. The review also covers the practical implications of corneal epithelial changes, including the association with corneal erosions, persistent epithelial defects, and an increased risk of dry eye syndrome in diabetic patients.
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  • 文章类型: Journal Article
    葡萄膜炎-青光眼-前房积血(UGH)综合征是由人工晶状体(IOL)与虹膜或睫状体之间的接触引起的,导致葡萄膜结构侵蚀和血水屏障破坏。治疗涉及各种药物,IOL摘除通常是必要的。诊断依赖于临床症状,但超声生物显微镜(UBM)或眼前节光学相干断层扫描(AS-OCT)等成像技术至关重要.AS-OCT准确描述IOL位置和潜在接触,在诊断中成为UBM的主要替代方案。我们的研究旨在将AS-OCT发现与临床上可检测到的虹膜萎缩与人工晶状体虹膜擦伤和UGH综合征的患者相关联。
    该研究回顾性分析了在雷焦艾米利亚眼免疫单元诊断为UGH综合征的患者,意大利,从2019年1月到2023年8月。收集患者数据。进行眼科检查和成像。评估AS-OCT图像中的窥视孔征。进行了统计分析,显著性水平为p≤0.05。
    该研究回顾了22例UGH综合征患者的22只眼。四只眼睛被排除在外,留下18名患者(8名女性,10名男性)。常见的误诊包括特发性前葡萄膜炎(55.5%)和疱疹性前葡萄膜炎(16.7%)。所有患者都有虹膜透照缺陷,主要为局灶性(77.8%)。AS-OCT显示所有眼睛都有IOL擦伤,与窥视孔标志相关。沟内IOL出现更多的窥视孔征象(p值=0.08)。
    本研究建议AS-OCT用于UGH综合征的确认,以及在AS-OCT扫描中未观察到IOL虹膜擦伤时的UBM。
    UNASSIGNED: Uveitis-Glaucoma-Hyphema (UGH) syndrome results from contact between the intraocular lens (IOL) and the iris or ciliary body, leading to uveal structure erosion and blood-aqueous barrier breakdown. Treatment involves various drugs, with IOL removal often being necessary. Diagnosis relies on clinical signs, but imaging techniques like ultrasound biomicroscopy (UBM) or anterior segment optical coherence tomography (AS-OCT) are crucial. AS-OCT accurately depicts IOL position and potential contact, emerging as a primary alternative to UBM in the diagnosis. Our study aimed to correlate AS-OCT findings with clinically detectable iris atrophy in pseudophakic patients with IOL-iris chafing and UGH syndrome.
    UNASSIGNED: The study retrospectively analyzed patients diagnosed with UGH syndrome presenting at the Ocular Immunology Unit of Reggio Emilia, Italy, from January 2019 to August 2023. Patients\' data were collected. Ophthalmological exams and imaging were performed. The peephole sign in AS-OCT images was evaluated. Statistical analyses were conducted, with a significance level of p ≤ 0.05.
    UNASSIGNED: The study reviewed 22 eyes of 22 patients with UGH syndrome. Four eyes were excluded, leaving 18 patients (8 females, 10 males). Common misdiagnoses included idiopathic anterior uveitis (55.5%) and herpetic anterior uveitis (16.7%). All patients had iris transillumination defects, mostly focal (77.8%). AS-OCT revealed IOL chafing in all the eyes, with peephole sign correlation. More peephole signs occurred with IOL in the sulcus (p-value = 0.08).
    UNASSIGNED: The study recommends AS-OCT for UGH syndrome confirmation and UBM when IOL-iris chafing is not observed on AS-OCT scans.
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  • 文章类型: Journal Article
    目的:这里,我们建议使用“KeraVio环”,这是一个便携式的,自拍为基础,基于Placido环视频内窥镜的智能手机连接的角膜地形图系统。这项研究的目的是评估和比较KeraVioRing和常规角膜断层扫描图像之间的角膜参数。
    方法:我们将KeraVioRing设计为一种包含3D打印LED环的设备,用于生成可连接到智能手机的Placido环。两个LED环连接到一个锥形装置,两个角膜都被照亮了。在没有任何审查员帮助的情况下,使用连接到智能手机的KeraVio戒指进行自拍。通过智能软件分析角膜上捕获的Placido环,以计算角膜参数。正常的患者,圆锥角膜,或LASIK治疗的眼睛包括在内。还对每个受试者进行了前段光学相干断层扫描(AS-OCT)。
    结果:我们发现最陡和最平坦的角膜曲率之间存在高度显著的相关性,角膜散光,以及使用KeraVio环和AS-OCT获得的矢量分量。在正常的受试者中,圆锥角膜,和LASIK治疗的眼睛,两种设备之间角膜散光的平均差异为-0.8±1.4屈光度(D)(95%的一致性界限(LoA),-3.6至2.0),-1.8±3.7D(95%LoA,-9.1至5.5),和-1.5±1.3D(95%LoA,-4.0至1.1),分别。
    结论:实验结果表明,通过KeraVio环获得的角膜参数与通过AS-OCT获得的角膜参数相关。KeraVioRing具有通过提供用于便携式基于自拍的角膜地形图的工具来解决未满足的需求的潜力。
    OBJECTIVE: Herein, we propose the use of the \"KeraVio Ring\", which is a portable, selfie-based, smartphone-attached corneal topography system that is based on the Placido ring videokeratoscope. The goal of this study was to evaluate and compare corneal parameters between KeraVio Ring and conventional corneal tomography images.
    METHODS: We designed the KeraVio Ring as a device comprising 3D-printed LED rings for generating Placido rings that can be attached to a smartphone. Two LED rings are attached to a cone-shaped device, and both corneas are illuminated. Selfies were taken using the KeraVio Ring attached to the smartphone without assistance from any of the examiners. Captured Placido rings on the cornea were analysed by intelligent software to calculate corneal parameters. Patients with normal, keratoconus, or LASIK-treated eyes were included. Anterior segment optical coherence tomography (AS-OCT) was also performed for each subject.
    RESULTS: We found highly significant correlations between the steepest and flattest keratometry, corneal astigmatism, and vector components obtained with the KeraVio Ring and AS-OCT. In subjects with normal, keratoconus, and LASIK-treated eyes, the mean difference in corneal astigmatism between the two devices was -0.8 ± 1.4 diopters (D) (95% limits of agreement (LoA), -3.6 to 2.0), -1.8 ± 3.7 D (95% LoA, -9.1 to 5.5), and -1.5 ± 1.3 D (95% LoA, -4.0 to 1.1), respectively.
    CONCLUSIONS: The experimental results showed that the corneal parameters obtained by the KeraVio Ring were correlated with those obtained with AS-OCT. The KeraVio Ring has the potential to address an unmet need by providing a tool for portable selfie-based corneal topography.
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  • 文章类型: Journal Article
    圆锥角膜是一种角膜疾病,导致角膜逐渐变薄和突出,导致不规则散光。这项研究的目的是评估圆锥角膜眼随时间发生的角膜体积(CV)的纵向变化。在两个不同的时间点:基线(T0)和1年后(T1),通过眼前节光学相干断层扫描(AS-OCT)对连续受圆锥角膜影响的患者进行评估。前后屈光度值;在直径为3、5和8mm的椎间盘内计算的最薄点(TP)的角膜厚度和角膜体积(CV);前房深度(ACD);获得前房体积(ACV)。根据疾病严重程度的增加将纳入的患者分为3组(第1、2、3组)和2组(A组,B)根据疾病的进展或稳定性。总的来说,116例患者的116眼(男性76例,女性40例,平均年龄34.76±13.99岁)。对于整个圆锥角膜患者来说,与T0相比,T1时的平均TP从458.7±52.2µm下降到454.6±51.6µm(p=0.0004);同时,在5mm和8mm处计算的CV平均值显着降低(从T0时的10.78±0.8降至T1时的10.75±0.79(p=0.02),从T0时的32.03±2.01mm3到T1时的31.95±1.98(p=0.02),分别)。相反,从T0到T1,3mm处的CV没有统计学上的显着差异(p=0.08),以及ACD和ACV。关于疾病的过程,从T0到T1,A组患者的TP差异有统计学意义,对于3毫米的CV,5mm和8mm(分别为p<0.0001、p<0.0001、p<0.001和p=0.0058)。A组的ACD(p=0.6916)和在3、5和8mm计算的ACV(分别为p=0.7709,p=0.3765,p=0.2475)无统计学差异。同时,在B组中,ACD(p=0.2897)和在3、5和8mm处计算的ACV(分别为p=0.9849,p=0.6420,p=0.8338)没有统计学上的显着差异。TP和CV在3mm处(r=0.6324,p<0.0001),5mm(r=0.7622,p<0.0001)和8mm(r=0.5987,p<0.0001)。总之,考虑到与TP的强相关性,当检测角膜角化眼的纵向变化时,CV可能被认为是与常规参数相关的附加AS-OCT参数。
    Keratoconus is a corneal disease which results in progressive thinning and protrusion of the cornea leading to irregular astigmatism. The purpose of this study was to evaluate longitudinal changes in corneal volume (CV) occurring over time in keratoconus eyes. Consecutive patients affected by keratoconus were evaluated by means of anterior segment-optical coherence tomography (AS-OCT) at two different time points: baseline (T0) and after 1 year (T1). Anterior and posterior refractive value; corneal thickness at the thinnest point (TP) and corneal volume (CV) calculated within discs of 3, 5 and 8 mm of diameter; anterior chamber depth (ACD); and anterior chamber volume (ACV) were obtained. Enrolled patients were divided into 3 groups (groups 1, 2, 3) according to the increasing disease severity and into 2 groups (groups A, B) according to the progression or stability of the disease. Overall, 116 eyes of 116 patients (76 males and 40 females, mean age 34.76 ± 13.99 years) were included. For the entire group of keratoconus patients, in comparison with T0, mean TP decreased at T1 from 458.7 ± 52.2 µm to 454.6 ± 51.6 µm (p = 0.0004); in parallel, mean value of CV calculated at 5 mm and 8 mm decreased significantly (from 10.78 ± 0.8 at T0 to 10.75 ± 0.79 at T1 (p = 0.02), and from 32.03 ± 2.01 mm3 at T0 to 31.95 ± 1.98 at T1 (p = 0.02), respectively). Conversely, there were no statistically significant differences in CV at 3 mm from T0 to T1 (p = 0.08), as well as for ACD and ACV. Regarding the course of the disease, patients belonging to group A showed statistically significant differences from T0 to T1 for TP, and for CV at 3 mm, 5 mm and 8 mm (p < 0.0001, p < 0.0001, p < 0.001 and p = 0.0058 respectively). There were no statistically significant differences for ACD (p = 0.6916) and ACV calculated at 3, 5 and 8 mm (p = 0.7709, p = 0.3765, p = 0.2475, respectively) in group A. At the same time, no statistically significant differences for ACD (p = 0.2897) and ACV calculated at 3, 5 and 8 mm (p = 0.9849, p = 0.6420, p = 0.8338, respectively) were found in group B. There were statistically significant positive correlations between changes of TP and CV at 3 mm (r = 0.6324, p < 0.0001), 5 mm (r = 0.7622, p < 0.0001) and 8 mm (r = 0.5987 p < 0.0001). In conclusion, given the strong correlation with TP, CV might be considered an additional AS-OCT parameter to be used in association with conventional parameters when detecting longitudinal changes in keratoconic eyes.
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  • 文章类型: Journal Article
    角膜是人眼中重要的屈光结构。角膜分割技术为临床诊断提供了有价值的信息,如角膜厚度。非接触式前段光学相干断层扫描(AS-OCT)是一种流行的眼科成像技术,可以可视化角膜的前表面和后表面。尽管如此,在成像过程中,饱和伪影通常是由于角膜表面在该点处的切线而产生的,这是正常的入射光源。这种条纹状的饱和伪影覆盖了角膜表面,导致角膜边缘模糊,降低了角膜分割的准确性。为了解决这个问题,提出了一种引入结构相似性和频率损失的修补方法来去除AS-OCT图像中的饱和伪影。具体来说,结构相似性损失重建角膜结构并恢复角膜纹理细节。频率损失将空间域与频域相结合,以确保图像在两个域中的整体一致性。此外,评估了所提出的方法在角膜分割任务中的性能,结果表明,对随后的临床分析有显著的益处。
    The cornea is an important refractive structure in the human eye. The corneal segmentation technique provides valuable information for clinical diagnoses, such as corneal thickness. Non-contact anterior segment optical coherence tomography (AS-OCT) is a prevalent ophthalmic imaging technique that can visualize the anterior and posterior surfaces of the cornea. Nonetheless, during the imaging process, saturation artifacts are commonly generated due to the tangent of the corneal surface at that point, which is normal to the incident light source. This stripe-shaped saturation artifact covers the corneal surface, causing blurring of the corneal edge, reducing the accuracy of corneal segmentation. To settle this matter, an inpainting method that introduces structural similarity and frequency loss is proposed to remove the saturation artifact in AS-OCT images. Specifically, the structural similarity loss reconstructs the corneal structure and restores corneal textural details. The frequency loss combines the spatial domain with the frequency domain to ensure the overall consistency of the image in both domains. Furthermore, the performance of the proposed method in corneal segmentation tasks is evaluated, and the results indicate a significant benefit for subsequent clinical analysis.
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  • 文章类型: Journal Article
    使用眼前段光学相干断层扫描(AS-OCT)研究早期和中度圆锥角膜(KC)患者的股骨超声辅助角膜环段(ICRS)植入后代偿性角膜上皮变化。
    一项前瞻性观察性非随机研究,研究对象为40只轻度至中度KC眼,接受了Femtolaser辅助ICRS植入术。根据患者的层析图,使用具有不同弧长和厚度的FerraraICRS。患者有一个清晰的中央角膜,角膜曲率测量读数<60屈光度,角膜厚度>400微米。术前以及术后1、3和6个月进行AS-OCT。在瞳孔中心上方的17个点(中央2mm和2-5mm和5-7mm环形区上的16个点)上测量角膜上皮厚度(CET)。收集并分析所有数据。
    比较术前和术后数据,在术后6个月随访期间,所有区域的CET均有统计学上的显著增加(p<0.001).到第一个月(5-7mm区域),在环脊周围和中心不久就发现了上皮厚度(ET)。到了第三个月,扁平的中央角膜(2mm区域)和2-5mm区域显示直到第6个月的ET显着增加。
    在KC中植入ICRS会导致中央角膜区的上皮更厚,更规则,这是对植入物引起的角膜基质变化的继发性反应。
    UNASSIGNED: To study the compensatory corneal epithelial changes after femtolaser-assisted intracorneal ring segment (ICRS) implantation in early and moderate cases of keratoconus (KC) using anterior segment optical coherence tomography (AS-OCT).
    UNASSIGNED: A prospective observational non-randomized study of 40 eyes with mild to moderate KC received femtolaser-assisted ICRS implantation. Ferrara ICRS with different arc lengths and thicknesses were used according to the patients\' tomographic pattern. Patients had a clear central cornea, keratometry reading < 60 diopters, and corneal thickness > 400 microns. AS-OCT was performed preoperatively and at 1, 3, and 6 months after surgery. Corneal epithelial thickness (CET) was measured over 17 points (2 mm central and 16 points on 2-5 mm and 5-7 mm annular zones) over the pupil center. All data were collected and analyzed.
    UNASSIGNED: Comparing the preoperative and postoperative data, there was a statistically significant increase in the CET postoperatively throughout the 6-month follow-up period in all zones (p<0.001). The epithelial thickness (ET) was noticed shortly around and central to the ring ridges by the first month (5-7 mm zone). By the third month, the flattened central cornea (2 mm zone) and the 2-5 mm zone showed a significant increase in ET up to the 6th month.
    UNASSIGNED: ICRS implantation in KC results in a thicker and more regular epithelium in the central corneal zone as a secondary response to the corneal stromal changes induced by the implants.
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  • 文章类型: Journal Article
    目的:本研究评估了使用CASIA2(3G.1版)内置软件获得的ACA测量值与来自临床专家的测量值的一致性和可重复性。
    方法:健康志愿者接受眼科评估和AS-OCT检查。使用CASIA2自动软件和临床医生识别,从自动和手动SS位置获得ACA测量值。分别。内部观察者,观察者间的再现性,使用组内相关系数(ICC)评估CASIA2-人类分级器的可重复性和CASIA2的可重复性。
    结果:该研究检查了30名参与者的58只眼。CASIA2软件对所有ACA参数显示出优异的可重复性(ICC>0.84)。观察者,观察者,CASIA2-人类分级者的可重复性也很好(ICC>0.87)。观察员之间的协议很高,除了鼻TISA500,观察者1和2之间不同(p<0.05)。CASIA2测量与人类分级者之间的一致性很高,除鼻部TISA500外,观察者1值较小(p<0.05)。
    结论:CASIA2内置软件可靠地测量健康个体的ACA参数,表现出高度的一致性。尽管在鼻TISA500测量中观察到微小的差异,观察者和CASIA2-人类分级者的可重复性仍然很好。自动SS检测有可能促进原发性闭角疾病的评估和监测。
    OBJECTIVE: This study evaluated the agreement and reproducibility of ACA measurements obtained using the built-in software of the CASIA2 (Version 3G.1) and the measurements derived from expert clinicians.
    METHODS: Healthy volunteers underwent ophthalmological evaluation and AS-OCT examination. ACA measurements derived from automated and manual SS location were obtained using the CASIA2 automated software and clinician identification, respectively. The intraobserver, interobserver reproducibility, CASIA2-human grader reproducibility and CASIA2 repeatability were assessed using intraclass correlation coefficients (ICCs).
    RESULTS: The study examined 58 eyes of 30 participants. The CASIA2 software showed excellent repeatability for all ACA parameters (ICC > 0.84). Intraobserver, interobserver, and CASIA2-human grader reproducibility were also excellent (ICC > 0.87). Interobserver agreement was high, except for nasal TISA500, differing between observers 1 and 2 (p < 0.05). The agreement between CASIA2 measurements and human graders was high, except for nasal TISA500, where observer 1 values were smaller (p < 0.05).
    CONCLUSIONS: The CASIA2 built-in software reliably measures ACA parameters in healthy individuals, demonstrating high consistency. Although a small difference was observed in nasal TISA500 measurements, interobserver and CASIA2-human grader reproducibility remained excellent. Automated SS detection has the potential to facilitate evaluation and monitoring of primary angle closure disease.
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  • 文章类型: Journal Article
    目的:探讨一个家族性晶格性角膜营养不良(LCD)家系的基因突变与临床表现的关系。
    方法:单家庭病例对照研究。
    方法:本研究招募了一个家族性LCD家庭。共有10名受影响的家庭成员和13名健康家庭成员参与了这项研究。通过裂隙灯检查和眼前节光学相干断层扫描(AS-OCT)检查临床特征。从每个参与者收集外周血样本,提取基因组DNA。进行全外显子组测序(WES)分析,使用生物信息学工具鉴定LCD的致病变体,并通过Sanger测序进行确认。
    结果:裂隙灯检查显示弥漫性灰白色点状,线性,角膜上皮和浅层角膜基质中的“晶格样”混浊。AS-OCT显示角膜形状不规则。角膜上皮和角膜前基质显示出高反射沉积和凸起。患者的临床表现符合I型晶格角膜营养不良(LCDI)的常染色体显性遗传的模式和特征。通过WES分析发现了转化生长因子β诱导(TGFBI)基因中外显子12的新致病变体,其中1613位的胞嘧啶被腺嘌呤取代(c.1613C>A),氨基酸从苏氨酸变为赖氨酸(p。T538K)。预测突变的基因和蛋白质是有害的。
    结论:在具有LCDI的中国家族中鉴定出TGFBI基因的新杂合致病变异体(c.1613C>A)。
    To investigate the gene mutations and relationship of clinical manifestation in a Chinese family with familial lattice corneal dystrophy (LCD).
    Single-family case-control study.
    A family with familial LCD was recruited for this study. A total of 10 affected and 13 healthy family members participated in this research. Clinical features were examined by slit-lamp examination and anterior segment optical coherence tomography (AS-OCT). Peripheral blood samples were collected from each participant, and genomic DNA was extracted. Whole-exome sequencing (WES) analysis was performed, and the pathogenic variants of LCD were identified using bioinformatics tools and confirmed by Sanger sequencing.
    Slit-lamp examination revealed diffuse grayish-white punctate, linear, and \"lattice-like\" opacities in the corneal epithelium and superficial corneal stroma. AS-OCT revealed an irregularly shaped cornea. The corneal epithelium and anterior corneal stroma showed high-reflective deposits and bulges. The clinical appearance of the patients fit the pattern and features of autosomal dominant inheritance of LCD type I (LCD I). A novel pathogenic variant of exon 12 in TGFBI was found by WES analysis, in which cytosine at position 1613 was substituted by adenine (c.1613C>A), and the amino acid was changed from threonine to lysine (p.T538K). Mutated genes and proteins were predicted to be deleterious.
    A novel heterozygous pathogenic variant (c.1613C>A) of TGFBI was identified in the Chinese family with LCD I.
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