Pub Date : 2024-01-01Epub Date: 2024-01-20DOI: 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.
{"title":"Foveal Microstructure and Visual Outcomes after Pars Plana Vitrectomy in Patients with Different Types of Epiretinal Membrane Foveoschisis.","authors":"Xiaohan Yang, Xijin Wu, Biying Qi, Ke Zhang, Yanping Yu, Xinbo Wang, Xiao Feng, Qinlang Jia, Zi-Bing Jin, Wu Liu","doi":"10.1159/000536206","DOIUrl":"10.1159/000536206","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"137-144"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139513174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-09-23DOI: 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.
{"title":"Associations between the Vessel Density in Deep Vascular Plexus and Macular Edema Recurrences in Patients with Retinal Vein Occlusion.","authors":"Yupeng Xu, Min Zhang, Haiyan Wang, Suqin Yu","doi":"10.1159/000541531","DOIUrl":"10.1159/000541531","url":null,"abstract":"<p><strong>Introduction: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"584-593"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-07-18DOI: 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.
{"title":"The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18).","authors":"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","doi":"10.1159/000540028","DOIUrl":"10.1159/000540028","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"435-447"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-10-10DOI: 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.
{"title":"Changes and Influencing Factors of Corneal Endothelial Cells and Central Corneal Thickness after Pediatric Cataract Surgery.","authors":"Jingyi Shi, Dandan Wang, Yang Xie, Ziyi Lu, Ruiwen Zhang, Renhui Dou, Mengjuan Xie, Ruru Chen, Yun-E Zhao","doi":"10.1159/000541947","DOIUrl":"10.1159/000541947","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"625-634"},"PeriodicalIF":4.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-05-07DOI: 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。
{"title":"Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.","authors":"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","doi":"10.1159/000538746","DOIUrl":"10.1159/000538746","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"301-310"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2023-12-18DOI: 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).
{"title":"Glaucoma Prediction Models Based on Ocular and Systemic Findings.","authors":"Daphna Landau Prat, Noa Kapelushnik, Mattan Arazi, Ofira Zloto, Ari Leshno, Eyal Klang, Sigal Sina, Shlomo Segev, Shahar Soudry, Guy J Ben Simon","doi":"10.1159/000535879","DOIUrl":"10.1159/000535879","url":null,"abstract":"<p><strong>Introduction: </strong>Our aim was to explore the impact of various systemic and ocular findings on predicting the development of glaucoma.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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%).</p><p><strong>Conclusions: </strong>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).</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"29-38"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2023-12-16DOI: 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。
{"title":"High-Altitude Exposure and Diabetic Retinopathy: Unveiling the Impact and Mechanisms of Alleviation.","authors":"Haijun Gong, Qihang Zhou, Zhujue Gama, Yuqing Lan","doi":"10.1159/000535429","DOIUrl":"10.1159/000535429","url":null,"abstract":"<p><strong>Background: </strong>High altitude (HA) is an extremely challenging environment for millions of people who either travel to HA regions or inhabit there permanently.</p><p><strong>Summary: </strong>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.</p><p><strong>Key messages: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"76-84"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.","authors":"Biting Zhou, Juhua Yang, Yue Bai, Yufei Li, Shuyang Chen, Xiaole Chen, Nanwen Zhang, Zongfu Cao, Yihua Zhu, Yingying Xu","doi":"10.1159/000535788","DOIUrl":"10.1159/000535788","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"62-75"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2023-12-13DOI: 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.
{"title":"Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.","authors":"Dong Ju Kim, Se Joon Woo, Kwangsic Joo","doi":"10.1159/000535430","DOIUrl":"10.1159/000535430","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"9-22"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.","authors":"Juan Chen, Jifeng Wan, Jiayi Jin, Guangming Jin, Yongxin Zheng, Danying Zheng, Liuxueying Zhong","doi":"10.1159/000538844","DOIUrl":"10.1159/000538844","url":null,"abstract":"<p><strong>Introduction: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"340-347"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}