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Foveal Microstructure and Visual Outcomes after Pars Plana Vitrectomy in Patients with Different Types of Epiretinal Membrane Foveoschisis. 不同类型视网膜外膜眼窝裂孔症患者的眼窝显微结构和玻璃体旁切除术后的视觉效果
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-20 DOI: 10.1159/000536206
Xiaohan Yang, Xijin Wu, Biying Qi, Ke Zhang, Yanping Yu, Xinbo Wang, Xiao Feng, Qinlang Jia, Zi-Bing Jin, Wu Liu

Introduction: The aim of this study was to evaluate the clinical characteristics and surgical outcomes of the epiretinal membrane foveoschisis (ERM-FS) with different morphological types.

Methods: This retrospective observational study reviewed 44 consecutive ERM-FS patients who underwent ERM surgery. According to the optical coherence tomography images, ERM-FS was classified into three groups: group A, FS crossed the fovea with the foveola elevated; group B, FS located at the foveal edges with a near-normal central foveal point thickness; and group C, FS with undermined foveal edges with a near-normal central foveal point thickness.

Results: There were 10 eyes in group A, 20 eyes in group B, and 14 eyes in group C. Preoperatively, eyes in group A had the best best-corrected visual acuity (BCVA), the thickest central foveal point thickness, and the highest ellipsoid zone (EZ) intact rate among the three groups. After surgery, a resolution of foveoschisis was observed in 40.0%, 45.0%, and 50.0% of the eyes in group A, group B, and group C (p = 0.928), respectively. BCVA was significantly improved postoperatively. Although there was no significant difference in BCVA among the three groups at 1 month postoperatively, BCVA of group A was the best at 4 and 10 months. Correlation analysis indicated that the type of ERM-FS, baseline BCVA, central foveal point thickness, and postoperative EZ continuity (all p < 0.05) were important factors for the final BCVA.

Conclusions: The damage to the retinal structure and visual function was milder in group A ERM-FS. Our study emphasized the necessity of OCT-based subtyping in patients with ERM-FS.

简介:目的评估不同形态类型的视网膜外膜眼窝裂孔(ERM-FS)的临床特征和手术效果:这项回顾性研究回顾了44例连续接受ERM手术的ERM-FS患者。根据光学相干断层扫描图像,ERM-FS 被分为三组:A 组,FS 穿过眼窝,眼窝隆起;B 组,FS 位于眼窝边缘,眼窝中心点厚度接近正常;C 组,FS 眼窝边缘凹陷,眼窝中心点厚度接近正常:A组有10只眼,B组有20只眼,C组有14只眼。术前,A组的最佳矫正视力(BCVA)最好,中央眼窝点厚度最厚,椭圆体区(EZ)完好率也是三组中最高的。手术后,A 组、B 组和 C 组分别有 40.0%、45.0% 和 50.0% 的眼球(P=0.928)的眼窝裂孔得到了解决。术后 BCVA 明显改善。虽然术后 1 个月时三组的 BCVA 无明显差异,但术后 4 个月和 10 个月时 A 组的 BCVA 最好。相关分析表明,ERM-FS的类型、基线BCVA、中心眼窝点厚度和术后EZ连续性(均P<0.05)是影响最终BCVA的重要因素:结论:A 组 ERM-FS 对视网膜结构和视功能的损害较轻。我们的研究强调了对 ERM-FS 患者进行基于 OCT 的亚分型的必要性。
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引用次数: 0
Associations between the Vessel Density in Deep Vascular Plexus and Macular Edema Recurrences in Patients with Retinal Vein Occlusion. 视网膜静脉闭塞患者深层血管丛中的血管密度与黄斑水肿复发之间的关系
IF 2 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-09-23 DOI: 10.1159/000541531
Yupeng Xu, Min Zhang, Haiyan Wang, Suqin Yu

Introduction: The aim of this study was to study the relationships between vessel density (VD) in different retinal vascular plexus and retinal vein occlusion-macular edema (RVO-ME) recurrence using wide-field swept source optical coherence tomography angiography (OCTA).

Methods: Patients with a history of central retinal vein occlusion (CRVO) or branch retinal vein occlusion (BRVO) with macular edema in the Department of Ophthalmology, Shanghai General Hospital, from May 25, 2020, to January 12, 2023, were retrospectively reviewed and recruited. All patients were followed up for at least 6 months and divided in the release group and the recurrence group. The optical coherence tomography and OCTA examination were performed. Demographics, retinal structural, and angiographic data were collected and compared between two groups. The ordinal logistic regression was performed to assess the risk factors for RVO-ME.

Results: A total of 85 patients were enrolled in this study. Among them, 30 patients had CRVO, while 55 had BRVO. The VD in the 6-9 mm ring in deep vascular plexus (DVP) was significantly higher in the recurrence group (25.414 ± 6.068% in the release group vs. 27.574 ± 7.767% in the recurrence group, p = 0.036). More patients with mean VD of the 6-9 mm ring in DVP no less than 30% were observed in the recurrence group (observed n = 20, expected n = 14.4, p = 0.043). The ordinal logistic regression reported that patients with mean VD of the 6-9 mm ring in DVP ≥30% had risk of RVO-ME increased to 11.508 (95% CI: 1.745-75.944, p = 0.011), when compared to the patients with mean VD of the 6-9 mm ring in DVP <20%, even with RVO type, baseline central macular thickness weighed.

Conclusion: High vessel density of the 6-9 mm ring in DVP, especially those ≥30%, was associated with macular edema recurrences in patients with retinal vein occlusion.

引言研究不同视网膜血管丛的血管密度(VD)与视网膜静脉闭塞-黄斑水肿(RVO-ME)复发之间的关系,采用宽视场扫源光学相干断层血管成像(OCTA)方法:回顾性分析 2020 年 5 月 25 日至 2023 年 1 月 12 日期间在上海总医院眼科就诊的视网膜中央静脉闭塞(CRVO)或视网膜分支静脉闭塞(BRVO)并伴有黄斑水肿的患者。所有患者均接受了至少 6 个月的随访,并分为脱离组和复发组。进行了光学相干断层扫描和 OCTA 检查。收集两组患者的人口统计学、视网膜结构和血管造影数据,并进行比较。对RVO-ME的风险因素进行了序数逻辑回归评估:本研究共纳入 85 名患者。结果:本研究共纳入 85 名患者,其中 30 名患者为 CRVO,55 名患者为 BRVO。复发组患者深部血管丛(DVP)6-9 mm环的VD明显高于释放组(释放组为25.414 ± 6.068%,复发组为27.574 ± 7.767%,P = 0.036)。复发组中观察到更多患者的 DVP 6-9 mm 环的平均 VD 不低于 30%(观察 n = 20,预期 n = 14.4,P = 0.043)。序数逻辑回归结果显示,DVP 中 6-9 mm 环的平均血管密度≥30%的患者与 DVP 中 6-9 mm 环的平均血管密度<20%的患者相比,即使有 RVO 类型、基线黄斑中心厚度权衡,RVO-ME 的风险也增加到 11.508(95% CI:1.745 至 75.944,P = 0.011):结论:在视网膜静脉闭塞患者中,DVP中6-9毫米环的高血管密度,尤其是那些≥30%的血管密度与黄斑水肿复发有关。
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引用次数: 0
The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18). 通过光谱域光学相干断层扫描测定的为期 24 个月的斯塔加特病(ProgStar)进展情况(ProgStar 第 19 号报告)。
IF 2 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-07-18 DOI: 10.1159/000540028
Rupert Wolfgang Strauss, Lang Lang, Alexander Ho, Anamika Jha, Michael Ip, Paul S Bernstein, David G Birch, Artur V Cideciyan, Michel Michaelides, Isabelle Audo, Janet S Sunness, Elias I Traboulsi, Eberhart Zrenner, SriniVas R Sadda, Lucas Janeschitz-Kriegl, Sheila West, Xiangrong Kong, Hendrik P N Scholl

Introduction: The aim of this study was to evaluate the progression of atrophy as determined by spectral-domain optical coherence tomography (SD-OCT) in patients with molecularly confirmed ABCA4-associated Stargardt disease type 1 (STGD1) over a 24-month period in a multicenter prospective cohort study.

Methods: SD-OCT images from 428 eyes of 236 patients were analyzed. Change of mean thickness (MT) and intact area were estimated after semiautomated segmentation for the following individual layers in the central subfield (CS), inner ring (IR), and outer ring (OR) of the ETDRS grid: retinal pigment epithelium (RPE), outer segments (OSs), inner segments (IS), outer nuclear layer (ONL) inner retina (IR), and total retina.

Results: Statistically significant decreases of all outer retinal layers (RPE, OS, IS, and ONL) could be observed over a 24-month period both in decline of mean retinal thickness and intact area (p < 0.0001, respectively), whereas the IR showed an increase of retinal thickness in the CS and IR and remained unchanged in the OR.

Conclusions: Significant loss could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with STGD1. Loss of thickness and/or intact area of such layers may serve as potential endpoints for clinical trials that aim to slow down the disease progression of STGD1.

简介在一项多中心前瞻性队列研究中,通过光谱域光学相干断层扫描(SD-OCT)评估分子确诊的 ABCA4 相关性斯塔加特病 1 型(STGD1)患者在 24 个月内眼球萎缩的进展情况:分析了 236 名患者 428 只眼睛的 SD-OCT 图像。在对 ETDRS 网格的中央子场 (CS)、内环 (IR) 和外环 (OR) 的以下各层进行半自动分割后,估算了平均厚度 (MT) 和完整面积的变化:视网膜色素上皮 (RPE)、外节段 (OS)、内节段 (IS)、外核层 (ONL) 视网膜内层 (IR) 和视网膜总层 (TR):结果:在 24 个月的时间里,所有视网膜外层(RPE、OS、IS 和 ONL)的平均视网膜厚度和完整面积都出现了统计学意义上的明显下降(分别为 p<.0001);而视网膜内层在中央子场和内环的视网膜厚度有所增加,在外环则保持不变:结论:SD-OCT 可以检测到 STGD1 患者视网膜外层在 24 个月的时间内有明显的缺失。这些视网膜外层的厚度和/或完整面积的损失可作为旨在减缓 STGD1 疾病进展的临床试验的潜在终点。
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引用次数: 0
Changes and Influencing Factors of Corneal Endothelial Cells and Central Corneal Thickness after Pediatric Cataract Surgery. 小儿白内障手术后角膜内皮细胞和角膜中央厚度的变化及影响因素
IF 4.6 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-10-10 DOI: 10.1159/000541947
Jingyi Shi, Dandan Wang, Yang Xie, Ziyi Lu, Ruiwen Zhang, Renhui Dou, Mengjuan Xie, Ruru Chen, Yun-E Zhao

Introduction: This study aimed to examine the impact of cataract surgery on the corneal endothelium and central corneal thickness (CCT) in pediatric patients, and to identify the factors associated with corneal alterations.

Methods: This retrospective study included consecutive children undergoing bilateral or unilateral cataract surgery and intraocular lens implantation at the Eye Hospital of Wenzhou Medical University, with or without posterior capsulorhexis and anterior vitrectomy, and an age-matched normal control group. This study aimed to assess whether changes in corneal parameters, including CCT, corneal endothelial cell density (CD), average cell area (AVE), standard deviation of size (SD), coefficient of variation (CV), percentage of hexagonal cells (6A) before and after surgery, and endothelial cell loss (ECL) differed among the bilateral cataract, unilateral cataract, and control groups. Furthermore, the potential effects of anterior vitrectomy, axial length, preoperative anterior chamber depth, surgical duration, horizontal corneal diameter, intraoperative pupil diameter (PD), and the number of corneal sutures on corneal endothelial parameters and CCT were investigated.

Results: A total of 107 eyes from 107 children were included in the study. In the bilateral cataract group, CD significantly decreased, AVE and CCT significantly increased, and ECL was significantly higher than in the control group. The unilateral cataract group also exhibited a significant increase in CCT. Additionally, the number of corneal sutures was negatively correlated with CD, and PD was negatively correlated with CV in the unilateral cataract group.

Conclusion: Cataract surgery in pediatric patients results in increased CCT, reduced CD, and morphological changes in corneal cells. A greater number of corneal sutures and a smaller PD increased the risk of CD reduction and elevated CV in the unilateral cataract group, underscoring the need for ophthalmologists to minimize corneal damage in these children.

简介:本研究旨在探讨白内障手术对儿童患者角膜内皮和角膜中央厚度(CCT)的影响,并确定与角膜改变相关的因素:这项回顾性研究纳入了在温州医科大学附属眼视光医院接受双侧或单侧白内障手术并植入人工晶体(IOL)的连续患儿,以及年龄匹配的正常对照组。本研究旨在评估双侧白内障组、单侧白内障组和对照组的角膜参数,包括CCT、角膜内皮细胞密度(CD)、平均细胞面积(AVE)、大小标准差(SD)、变异系数(CV)、六角形细胞百分比(6A)以及内皮细胞丢失(ECL)在手术前后的变化是否存在差异。此外,还研究了玻璃体前部切除术、轴向长度(AL)、术前前房深度(ACD)、手术持续时间、角膜水平直径(HCD)、术中瞳孔直径(PD)和角膜缝合数量对角膜内皮参数和 CCT 的潜在影响:研究共纳入了 107 名儿童的 107 只眼睛。与对照组相比,双侧白内障组的 CD 明显降低,AVE 和 CCT 明显升高,ECL 明显升高。单侧白内障组的 CCT 也明显增加。此外,单侧白内障组的角膜缝合数量与 CD 呈负相关,PD 与 CV 呈负相关:结论:儿童白内障手术会导致 CCT 增高、CD 降低和角膜细胞形态变化。在单侧白内障组中,角膜缝合数量越多、PD越小,CD减少和CV升高的风险就越大,这说明眼科医生需要尽量减少对这些儿童角膜的损伤。
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引用次数: 0
Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa. 杆状 CNG 通道相关视网膜色素变性患者群体的基因型和表型特征。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-05-07 DOI: 10.1159/000538746
Leonardo Colombo, Gabriele Bonetti, Paolo Enrico Maltese, Giancarlo Iarossi, Lucia Ziccardi, Paolo Fogagnolo, Valentino De Ruvo, Vittoria Murro, Dario Giorgio, Benedetto Falsini, Giorgio Placidi, Salvatore Martella, Eleonora Galantin, Matteo Bertelli, Luca Rossetti

Introduction: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively, accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study was to describe and compare genotypic and clinical characteristics of a cohort of patients with CNGA1- or CNGB1-related RP and to explore potential genotype-phenotype correlations.

Methods: The following data from patients with CNGA1- or CNGB1-related RP, followed in five Italian inherited retinal degenerations services, were retrospectively collected: genetic variants in CNGA1 and CNGB1, best-corrected visual acuity (BCVA), ellipsoid zone (EZ) width, fundus photographs, and short-wavelength fundus autofluorescence (SW-AF) images. Comparisons and correlation analyses were performed by first dividing the cohort in two groups according to the gene responsible for the disease (CNGA1 and CNGB1 groups). In parallel, the whole cohort of RP patients was divided into two other groups, according to the expected impact of the variants at protein level (low and high group).

Results: In total, 29 patients were recruited, 11 with CNGA1- and 18 with CNGB1-related RP. In both CNGA1 and CNGB1, 5 novel variants in CNGA1 and 5 in CNGB1 were found. BCVA was comparable between CNGA1 and CNGB1 groups, as well as between low and high groups. CNGA1 group had a larger mean EZ width compared to CNGB1 group, albeit not statistically significant, while EZ width did not differ between low and high groups A statistically significant correlation between EZ width and BCVA as well as between EZ width and age were observed in the whole cohort of RP patients. Fundus photographs of all patients in the cohort showed classic RP pattern, and in SW-AF images an hyperautofluorescent ring was observed in 14/21 patients.

Conclusion: Rod CNG channel-associated RP was demonstrated to be a slowly progressive disease in both CNGA1- and CNGB1-related forms, making it an ideal candidate for gene augmentation therapies.

前言视网膜色素变性(RP)是一种异质性遗传性视网膜疾病,会导致视力逐渐减退,全球有超过 100 万人受其影响。CNGA1 和 CNGB1 基因的致病变异影响杆状感光细胞中的环核苷酸门控通道,分别占病例的 1%和 4%。本研究旨在描述和比较一组 CNGA1 或 CNGB1 相关 RP 患者的基因型和临床特征,并探讨潜在的基因型与表型之间的相关性:回顾性收集了意大利五家遗传性视网膜变性服务机构随访的 CNGA1- 或 CNGB1 相关 RP 患者的以下数据:CNGA1 和 CNGB1 基因变异、最佳矫正视力 (BCVA)、椭圆带 (EZ) 宽度、眼底照片和短波长眼底自动荧光 (SW-AF) 图像。首先根据致病基因将样本分为两组(CNGA1 组和 CNGB1 组),然后进行比较和相关性分析。与此同时,根据变异在蛋白质水平上的预期影响(低组和高组),将所有 RP 患者分为另外两组:共招募了 29 名患者,其中 11 名是 CNGA1 相关 RP 患者,18 名是 CNGB1 相关 RP 患者。在 CNGA1 和 CNGB1 中分别发现了 5 个和 5 个新变异。CNGA1组和CNGB1组之间以及低视力组和高视力组之间的BCVA相当。与 CNGB1 组相比,CNGA1 组的平均 EZ 宽度更大,尽管没有统计学意义,而低 EZ 宽度组与高 EZ 宽度组之间没有差异。队列中所有患者的眼底照片都显示出典型的 RP 模式,在 SW-AF 图像中,14/21 例患者观察到高荧光环:棒状 CNG 通道相关 RP 在 CNGA1- 和 CNGB1 相关形式中都被证明是一种缓慢进展的疾病,因此是基因增强疗法的理想候选者。
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引用次数: 0
Glaucoma Prediction Models Based on Ocular and Systemic Findings. 基于眼部和全身检查结果的青光眼预测模型
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2023-12-18 DOI: 10.1159/000535879
Daphna Landau Prat, Noa Kapelushnik, Mattan Arazi, Ofira Zloto, Ari Leshno, Eyal Klang, Sigal Sina, Shlomo Segev, Shahar Soudry, Guy J Ben Simon

Introduction: Our aim was to explore the impact of various systemic and ocular findings on predicting the development of glaucoma.

Methods: Medical records of 37,692 consecutive patients examined at a single medical center between 2001 and 2020 were analyzed using machine learning algorithms. Systemic and ocular features were included. Univariate and multivariate analyses followed by CatBoost and Light gradient-boosting machine prediction models were performed. Main outcome measures were systemic and ocular features associated with progression to glaucoma.

Results: A total of 7,880 patients (mean age 54.7 ± 12.6 years, 5,520 males [70.1%]) were included in a 3-year prediction model, and 314 patients (3.98%) had a final diagnosis of glaucoma. The combined model included 185 systemic and 42 ocular findings, and reached an ROC AUC of 0.84. The associated features were intraocular pressure (48.6%), cup-to-disk ratio (22.7%), age (8.6%), mean corpuscular volume (MCV) of red blood cell trend (5.2%), urinary system disease (3.3%), MCV (2.6%), creatinine level trend (2.1%), monocyte count trend (1.7%), ergometry metabolic equivalent task score (1.7%), dyslipidemia duration (1.6%), prostate-specific antigen level (1.2%), and musculoskeletal disease duration (0.5%). The ocular prediction model reached an ROC AUC of 0.86. Additional features included were age-related macular degeneration (10.0%), anterior capsular cataract (3.3%), visual acuity (2.0%), and peripapillary atrophy (1.3%).

Conclusions: Ocular and combined systemic-ocular models can strongly predict the development of glaucoma in the forthcoming 3 years. Novel progression indicators may include anterior subcapsular cataracts, urinary disorders, and complete blood test results (mainly increased MCV and monocyte count).

导言我们的目的是探索各种全身和眼部检查结果对预测青光眼发展的影响:使用机器学习算法分析了 2001-2020 年间在一家医疗中心接受检查的 37,692 名连续患者的医疗记录。其中包括全身和眼部特征。采用 Cat Boost 和 Light Gradient-Boosting Machine (GBM) 预测模型进行单变量和多变量分析。主要结果指标是与青光眼进展相关的全身和眼部特征:7880名患者(平均年龄54.7±12.6岁,5520名男性[70.1%])被纳入3年预测模型,314名患者(3.98%)最终被诊断为青光眼。综合模型包括 185 项系统检查结果和 42 项眼部检查结果,ROC AUC 为 0.84。相关特征有:眼压(48.6%)、杯盘比(22.7%)、年龄(8.6%)、红细胞平均体积(MCV)趋势(5.2%)、泌尿系统疾病(3.3%)、MCV(2.6%)、肌酐水平趋势(2.1%)、单核细胞计数趋势(1.7%)、测力计代谢当量任务评分(1.7%)、血脂异常持续时间(1.6%)、前列腺特异性抗原水平(1.2%)和肌肉骨骼疾病持续时间(0.5%)。眼部预测模型的 ROC AUC 为 0.86。其他特征包括:年龄相关性黄斑变性(10.0%)、前囊性白内障(3.3%)、视力(2.0%)和毛细血管周围萎缩(1.3%):结论:眼部模型和全身-眼部综合模型可以有力地预测未来三年内青光眼的发展。新的发展指标可能包括前囊下白内障、泌尿系统疾病和全血细胞检测结果(主要是 MCV 和单核细胞计数增加)。
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引用次数: 0
High-Altitude Exposure and Diabetic Retinopathy: Unveiling the Impact and Mechanisms of Alleviation. 高海拔与糖尿病视网膜病变:揭示影响和缓解机制。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2023-12-16 DOI: 10.1159/000535429
Haijun Gong, Qihang Zhou, Zhujue Gama, Yuqing Lan

Background: High altitude (HA) is an extremely challenging environment for millions of people who either travel to HA regions or inhabit there permanently.

Summary: Significant progress has been made over the past decades in the understanding of physiological adaptations in HA conditions, and recently, more studies regarding its influence on metabolic disease have been published. However, the effect of HA on diabetic retinopathy (DR), the leading cause of blindness, remains unclear.

Key messages: The present article provides an overview of the changes in the principal physiology and clinical characteristics related to DR after HA exposure. Despite conflicting evidence, this review synthesizes the available studies and explores the potential mechanisms, such as genetic adaptations, glucose homeostasis, and related physiological changes, by which long-term exposure to HA may alleviate the progression of DR. By shedding light on this complex relationship, it also provides insights into the interplay between HA and DR, offering valuable implications for clinical practice and further research.

高海拔地区(HA)对数百万前往或长期居住在该地区的人来说是一个极具挑战性的环境。过去几十年来,人们在了解高海拔条件下的生理适应方面取得了重大进展,最近,有关高海拔对代谢性疾病影响的研究也越来越多。然而,HA对糖尿病视网膜病变(DR)这一主要致盲原因的影响仍不清楚。本文概述了接触 HA 后与 DR 相关的主要生理和临床特征的变化。尽管证据相互矛盾,但这篇综述对现有研究进行了归纳,并探讨了遗传适应、葡萄糖稳态和相关生理变化等潜在机制,通过这些机制,长期暴露于 HA 可减轻 DR 的进展。通过揭示这种复杂的关系,本综述还深入探讨了 HA 与 DR 之间的相互作用,为临床实践和进一步研究提供了有价值的启示。
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引用次数: 0
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants. HPS6的新型变体导致疑似眼白化病:两例病例的报告和 HPS6 变体的概况。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.1159/000535788
Biting Zhou, Juhua Yang, Yue Bai, Yufei Li, Shuyang Chen, Xiaole Chen, Nanwen Zhang, Zongfu Cao, Yihua Zhu, Yingying Xu

Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disease characterized by ocular albinism (OA) or oculocutaneous albinism (OCA), platelet dysfunction, and other symptoms. This study aimed to analyze the molecular defect in two Chinese families with suspected OA, as well as to investigate the profile of HPS6 variants and their genotype-phenotype correlations.

Methods: Seven members from two families were recruited and underwent clinical ophthalmologic examinations. The genomic DNA was extracted from peripheral blood leukocytes. Whole-exome sequencing was performed on the proband of family JX. The single coding exon of HPS6 was directly Sanger sequenced based on PCR amplification in all available family members. An additional 46 probands from families or sporadic cases with the pathogenic variants of HPS6 reported in the literature were reviewed.

Results: We identified two different compound heterozygous truncating variants of HPS6 in probands with suspected OA from two independent families. The proband of family JX had c.1674dup and c.503-504del variants, and the other proband from family CZ had a nonsense variant of c.1114C>T and a frameshift variant of c.1556del. Among them, c.1674dup and c.1556del variants in HPS6 have not been reported previously. Therefore, our patients were diagnosed as HPS6 disease by molecular diagnostics. In the retrospective cohort of HPS6 patients, we delineated the profile of HPS6 variants and revealed a significant overlap between CpG islands and the variants of HPS6, suggesting a potential link between DNA methylation and HPS6 variants. We also observed a spatial aggregation of the variants in 3D structure of HPS6 protein, implying the possible functional significance of these structural regions. In addition, we did not find any significant genotype-phenotype correlation of HPS6, and neither did we observe a correlation between the truncation length of the HPS6 protein and the phenotype of HPS6 disease.

Conclusion: Our research expands the spectrum of HPS6 variants, providing a comprehensive delineation of their profile and systematically investigating genotype-phenotype correlations in HPS6. These findings could offer potentially valuable clues for investigating the molecular mechanism underlying HPS6 pathogenesis, as well as aiding the clinical diagnosis of HPS6 patients and improving disease prognosis.

简介赫尔曼斯基-普德拉克综合征(HPS)是一种罕见的常染色体隐性遗传病,以眼部白化病(OA)或眼皮白化病(OCA)、血小板功能障碍和其他症状为特征。本研究旨在分析两个中国疑似 OA 家系的分子缺陷,并调查 HPS6 变异的概况及其基因型与表型的相关性:方法:招募两个家族的七名成员,对其进行临床眼科检查。从外周血白细胞中提取基因组 DNA。对 JX 家族的原告进行了全外显子组测序。根据所有可用家庭成员的 PCR 扩增结果,直接对 HPS6 的单编码外显子进行了 Sanger 测序。此外,我们还对文献中报道的 46 个具有 HPS6 致病变体的家族或散发性病例的概率进行了审查:我们在两个独立家族的疑似 OA 患者中发现了两种不同的 HPS6 复合杂合截短变异体。JX家族的病例有c.1674dup和c.503-504del变异,CZ家族的另一位病例有c.1114C>T的无义变异和c.1556del的框架移位变异。其中,HPS6的c.1674dup和c.1556del变异此前尚未见报道。因此,我们的患者被分子诊断为HPS6疾病。在HPS6患者的回顾性队列中,我们描绘了HPS6变异的轮廓,发现CpG岛与HPS6变异之间存在显著重叠,这表明DNA甲基化与HPS6变异之间存在潜在联系。我们还在 HPS6 蛋白的三维结构中观察到了变异体的空间聚集,这意味着这些结构区域可能具有重要的功能意义。此外,我们没有发现HPS6的基因型与表型之间存在明显的相关性,也没有观察到HPS6蛋白的截断长度与HPS6疾病的表型之间存在相关性:我们的研究扩大了 HPS6 变异的范围,对其概况进行了全面的描述,并系统地研究了 HPS6 基因型与表型之间的相关性。这些发现可能为研究 HPS6 发病的分子机制提供有价值的线索,并有助于 HPS6 患者的临床诊断和改善疾病预后。
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引用次数: 0
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy. 成年发病的圆锥和圆锥杆营养不良症的表型和遗传变化
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.1159/000535430
Dong Ju Kim, Se Joon Woo, Kwangsic Joo

Introduction: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals.

Methods: This is a single-center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed.

Results: The median age at the first visit was 52 years (range, 31-76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull's eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p.Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs.

Conclusion: In case of visual impairment with bull's eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians.

目的:研究韩国人成年型锥体/圆锥-杆状营养不良症(AOCD/AOCRD)的临床特征和遗传谱:这是一项单中心、回顾性横断面研究。方法:这是一项单中心回顾性横断面研究。我们分析了 22 名经遗传学证实患有锥体营养不良症的患者,他们的症状始于 30 岁以后。所有患者均接受了全面的眼科和电生理检查。对与遗传性视网膜疾病相关的 296 个基因进行了外显子组测序。分析了AOCD/AOCRD患者的临床特征以及外显子组测序检测到的致病基因和变异:首次就诊时的中位年龄为 52 岁(31 至 76 岁),最常见的初始症状是视力下降。在大多数病例中,眼底照相显示出牛眼模式,并伴有眼窝疏松,这与光学相干断层扫描显示的眼窝周围感光细胞缺失一致。我们在六个基因中发现了致病变体:RP1、CRX、CDHR1、PROM1、CRB1 和 GUCY2D。在 77% 的 AOCD/AOCRD 病例中发现了 RP1、CRX 和 CDHR1 中的致病变异,包括 RP1 中的 p.Cys1399LeufsTer5、p.Arg1933Ter 和 p.Ile2061SerfsTer12;CRX 中的 p.Ter300GlnextTer118;CDHR1 中的 p.Glu201Lys。没有观察到任何致病基因有特征性的成像差异。大多数与RP1相关的AOCD/AOCRD病例仅表现为视网膜光电图(ERG)振幅下降,而与CRX相关的AOCD/AOCRD病例则表现为视网膜光电图和视网膜光电图振幅均略有下降:结论:如果在中年以后发现视力受损并伴有RPE萎缩的牛眼模式,应考虑进行全面的眼科检查和基因检测,东亚人可能患有AOCD/AOCRD。
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引用次数: 0
Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2. 一个中国家族中因 LTBP2 的新型单倍型突变导致的常染色体显性 Weill-Marchesani-like 综合征。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-05-21 DOI: 10.1159/000538844
Juan Chen, Jifeng Wan, Jiayi Jin, Guangming Jin, Yongxin Zheng, Danying Zheng, Liuxueying Zhong

Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2).

Methods: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members.

Results: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity.

Conclusion: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance.

简介韦尔-马切桑尼综合征(WMS)是一种遗传性结缔组织疾病,其临床特征和遗传病因具有很大的异质性,因此,确定完整的突变谱对于早期诊断至关重要。在这项研究中,我们报告了潜伏转化生长因子β结合蛋白2(LTBP2)的新型单倍型突变导致的Weill-Marchesani-like综合征(WMS-like)变为常染色体显性遗传:从广州一个四代同堂的中国家庭中招募了 25 名成员,其中 9 人被诊断患有 WMS 样疾病,9 人健康,7 人因年龄较小而临床状态 "不确定"。所有成员都接受了详细的身体和眼部检查。全外显子组测序、桑格测序和实时 PCR 被用来鉴定和验证家族成员的致病基因突变:结果:基因测序发现,在与WMS-like相关的同一条LTBP2染色体上存在新的单倍型突变,即第16号外显子c. 2657C>A/p.T886K和第25-36号外显子缺失。在临床诊断为 WMS-like 的患者和一名 "不确定 "儿童中,实时 PCR 和 Sanger 测序验证了这两个突变。在这些患者中,单倍型突变导致了眼睑外翻、身材矮小和肥胖: 我们的研究表明,WMS-like 可能与单倍型 LTBP2 突变有关,且为常染色体显性遗传。
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引用次数: 0
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Ophthalmic Research
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