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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
Ophthalmic Research 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
{"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&gt;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":null,"pages":null},"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}
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
Ophthalmic Research 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
{"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":null,"pages":null},"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}
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
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.1159/000535430
Dong Ju Kim, Se Joon Woo, Kwangsic Joo
{"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":null,"pages":null},"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}
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
Ophthalmic Research 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
{"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&gt;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":null,"pages":null},"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}
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
Ophthalmic Research 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
{"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":null,"pages":null},"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}
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
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2023-12-16 DOI: 10.1159/000535429
Haijun Gong, Qihang Zhou, Zhujue Gama, Yuqing Lan
{"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":null,"pages":null},"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}
引用次数: 0
Evaluation of Macular Thickness in Glaucoma Patients Using Prostaglandin Analog Eye Drops Undergoing Trabeculectomy with Mitomycin C: Prospective, Comparative, Randomized, Masked Examiner Study. 使用前列腺素类似物滴眼液的青光眼患者在进行小梁切除术和丝裂霉素 C 时的黄斑厚度评估:前瞻性、比较性、随机、蒙面检查研究。
IF 2 4区 医学
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2024-08-27 DOI: 10.1159/000541104
Sula Cristina Assis de Britto Santiago, Marcos Pereira de Ávila, Leopoldo Magacho
{"title":"Evaluation of Macular Thickness in Glaucoma Patients Using Prostaglandin Analog Eye Drops Undergoing Trabeculectomy with Mitomycin C: Prospective, Comparative, Randomized, Masked Examiner Study.","authors":"Sula Cristina Assis de Britto Santiago, Marcos Pereira de Ávila, Leopoldo Magacho","doi":"10.1159/000541104","DOIUrl":"10.1159/000541104","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to evaluate the macular thickness of glaucomatous patients undergoing trabeculectomy (TREC) with mitomycin C (MMC) with or without the use of prostaglandin analog (PA) eye drops.</p><p><strong>Methods: </strong>In this prospective, comparative clinical trial, patients with glaucoma and indications for TREC with MMC using PA and without previous macular changes were randomized into 2 groups: the study group (SG) and the control group (CG). In the CG, PA was suspended between 30 and 60 days after the preoperative exams. The subjects were evaluated, including optical coherence tomography (OCT) with the Cirrus 4000 macular protocol preoperatively and in the postoperative period on 3 occasions: 1-3 days (\"PO1\"), 6-9 days (\"PO7\"), and 27-30 days (\"PO30\") after surgery. The results were compared between groups.</p><p><strong>Results: </strong>Thirty-five eyes of 35 patients were included (17 in the CG and 18 in the SG). There was no statistically significant difference in age (p = 0.2), the preoperative visual field mean deviation (p = 0.08), or the preoperative intraocular pressure (SG: 24.8 ± 7.8 mm Hg vs. CG: 22.8 ± 6.0 mm Hg, p = 0.4). The preoperative macular OCT parameters were equivalent between the groups (p &gt; 0.05). When comparing the variation of parameters between the groups between preop and PO30 there was equivalence in all of the comparisons evaluated. The presence (or absence) of the lens did not affect the results.</p><p><strong>Conclusion: </strong>PA eye drops did not affect macular thickness after TREC with MMC in glaucomatous patients.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081209","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}
引用次数: 0
The Retinal Blood Flow Density Is Related to the Pathological Severity of Diabetic Kidney Disease. 视网膜血流密度与糖尿病肾病的病理严重程度有关。
IF 2 4区 医学
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2024-09-13 DOI: 10.1159/000541354
Yuancheng Zhao, Chang Zhou, Furong Li, Yonghong Tang, Rongdi Yuan, Wei Fan
{"title":"The Retinal Blood Flow Density Is Related to the Pathological Severity of Diabetic Kidney Disease.","authors":"Yuancheng Zhao, Chang Zhou, Furong Li, Yonghong Tang, Rongdi Yuan, Wei Fan","doi":"10.1159/000541354","DOIUrl":"10.1159/000541354","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to investigate the correlation between fundus blood flow parameters and the severity of pathological biopsy in patients with diabetic kidney disease (DKD).</p><p><strong>Methods: </strong>Data of patients with type 2 diabetes mellitus who completed renal pathology biopsies and optical coherence tomography angiography (OCTA) examinations, including renal function, 24-h urine protein quantification, and macular flow imaging, were collected. DKD pathology biopsies were graded as stages 1-4, and differences and correlations of the parameters were compared between groups. The grading was transformed into early (stage 1) and late (stages 2-4), and regression analyses were conducted to develop a model, draw a nomogram, and test efficacy.</p><p><strong>Results: </strong>This study included 157 eyes from 157 individuals in total. Urinary microalbumin and to urinary creatinine ratio (mALB/NCR) increased with pathological grading, whereas while glomerular filtration rate was decreased (p &lt; 0.01). Corresponding retinal blood flow in superficial, deep, and full paracentral rings was decreased, which correlated with pathological grading (p &lt; 0.01), with the highest blood flow density in the whole layer (r2 = -0.707). Meaningfully, in the early DKD model (area under the curve = 0.929 [0.889-0.970], p &lt; 0.01), whole-layer blood flow density, mALB/NCR, and diabetes duration were statistically significant.</p><p><strong>Conclusions: </strong>The decrease in macular retinal blood flow density detected by OCTA is closely associated with the increase in pathological grading of DKD and can be used as a noninvasive parameter for monitoring early changes in DKD.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292826","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}
引用次数: 0
Inhibition of Heat Shock Protein 90 Lowered Intraocular Pressure without Affecting the Production of Aqueous Humor in Rabbits. 抑制热休克蛋白 90 可降低兔子的眼压,但不会影响房水的分泌。
IF 2.1 4区 医学
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2023-12-10 DOI: 10.1159/000535374
Yuji Takahashi, Tomohiro Otsuka, Reijiro Arakawa, Akira Naito
{"title":"Inhibition of Heat Shock Protein 90 Lowered Intraocular Pressure without Affecting the Production of Aqueous Humor in Rabbits.","authors":"Yuji Takahashi, Tomohiro Otsuka, Reijiro Arakawa, Akira Naito","doi":"10.1159/000535374","DOIUrl":"10.1159/000535374","url":null,"abstract":"<p><strong>Introduction: </strong>Heat shock protein (Hsp) 90 is one of the most abundant proteins in unstressed cells and regulates stability and functional maintenance of client proteins. In ocular tissue, Hsp90 is widely expressed in the cornea and retina and has multiple roles in these tissues. The expression of HSPs was induced in the retinas of glaucomatous patients and laser-induced glaucoma in monkey while their mechanisms remain to be elucidated. For this reason, we tried to elucidate the role of Hsp90 in intraocular pressure (IOP) regulation in rabbits.</p><p><strong>Methods: </strong>IOP was measured by a pneumatonometer before and after intracameral injection of Hsp90 inhibitors. The aqueous flow rate was measured by fluorophotometry. Trans-epithelial electrical resistance was measured in primary human trabecular meshwork cells.</p><p><strong>Results: </strong>17-AAG, a specific Hsp90 inhibitor, significantly lowered IOP at concentrations of more than 30 μ<sc>m</sc> in normotensive rabbits. Other Hsp90 inhibitors also significantly lowered IOP in normotensive rabbits at a dose of 100 μ<sc>m</sc>. No reduction of aqueous humor production was observed by injection of 17-AAG in rabbits. Topical administration of pilocarpine tended to attenuate the IOP-lowering effects induced by the Hsp90 inhibitor. No reduction of trans-epithelial electrical resistance was observed by inhibition of Hsp90 in culture cells.</p><p><strong>Conclusions: </strong>These results indicated that intraocular Hsp90 regulates IOP, and the inhibition of Hsp90 by Hsp90 inhibitor decreases IOP without affecting aqueous humor production in rabbits. Further research in elucidating the mechanism of Hsp90 inhibitors will result in a better understanding of the role of Hsp90 in the regulation of IOP.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807733","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}
引用次数: 0
Clinical Characteristics of Microcystic Macular Edema in Chronic Primary Angle-Closure Glaucoma and Primary Open-Angle Glaucoma Patients. 慢性原发性闭角型青光眼和原发性开角型青光眼患者微囊性黄斑水肿的临床特征。
IF 2.1 4区 医学
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2024-01-19 DOI: 10.1159/000535900
Hui Xiao, Yuan Liu, Ni Guo, Ling Jin, Zhenyu Wang, Shufen Lin, Yixiu Lin, Shaoyang Zheng, Yuheng Tan, Nachuan Luo, Xing Liu, Chengguo Zuo
{"title":"Clinical Characteristics of Microcystic Macular Edema in Chronic Primary Angle-Closure Glaucoma and Primary Open-Angle Glaucoma Patients.","authors":"Hui Xiao, Yuan Liu, Ni Guo, Ling Jin, Zhenyu Wang, Shufen Lin, Yixiu Lin, Shaoyang Zheng, Yuheng Tan, Nachuan Luo, Xing Liu, Chengguo Zuo","doi":"10.1159/000535900","DOIUrl":"10.1159/000535900","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigated the clinical characteristics of and risk factors for microcystic macular edema (MME) in patients with chronic primary angle-closure glaucoma (CPACG) and primary open-angle glaucoma (POAG).</p><p><strong>Methods: </strong>This retrospective observational study included 1,588 eyes from 926 glaucoma inpatients and analyzed the patients' basic demographic information, visual field parameters, macular scans, and peripapillary retinal nerve fiber layer thickness.</p><p><strong>Results: </strong>Our findings were that the incidence rate of MME was 3.97% (34/857) in CPACG and 5.88% (43/731) in POAG. MME was predominantly diagnosed at an advanced stage in CPACG (almost 100%) compared to POAG (93.02%). MME was most frequently involved in the inferior (83.12%) quadrant of the peri-macular region in both CPACG and POAG. Risk factors for MME occurrence in CPACG and POAG included lower visual field mean deviation (OR = 1.14, 95%: CI 1.05-1.24, p = 0.003; OR = 1.14, 95% CI: 1.06-1.21, p &lt; 0.001) and younger age (OR = 0.92, 95% CI: 0.88-0.96, p &lt; 0.001; OR = 0.96, 95% CI: 0.93-0.99, p = 0.003), while female sex (OR = 0.30, 95% CI: 0.11-0.84, p = 0.022) reduced the MME occurrence in POAG.</p><p><strong>Conclusion: </strong>MME could develop in both CPACG and POAG patients, occurring earlier in POAG. The inferior peri-macular region is commonly affected. Younger age and poorer visual field are risk factors for MME in glaucoma patients.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139513169","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}
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