Investigative ophthalmology & visual science最新文献

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Evaluating the Progression of Retinal Sensitivity Loss in Geographic Atrophy Using Machine-Learning-Based Structure-Function Correlation (OMEGA 2). 使用基于机器学习的结构-功能相关性(OMEGA 2)评估地理萎缩视网膜敏感性丧失的进展。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.34
Georg Ansari, Nils Schärer, Kristina Pfau, Philippe Valmaggia, Chrysoula Gabrani, Hanna Zuche, Andrea Giani, Marieh Esmaeelpour, Taffeta Chingning Yamaguchi, Nicolas Feltgen, Peter M Maloca, Leopold Schmetterer, Hendrik P N Scholl, Maximilian Pfau
{"title":"Evaluating the Progression of Retinal Sensitivity Loss in Geographic Atrophy Using Machine-Learning-Based Structure-Function Correlation (OMEGA 2).","authors":"Georg Ansari, Nils Schärer, Kristina Pfau, Philippe Valmaggia, Chrysoula Gabrani, Hanna Zuche, Andrea Giani, Marieh Esmaeelpour, Taffeta Chingning Yamaguchi, Nicolas Feltgen, Peter M Maloca, Leopold Schmetterer, Hendrik P N Scholl, Maximilian Pfau","doi":"10.1167/iovs.66.11.34","DOIUrl":"10.1167/iovs.66.11.34","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to evaluate the effectiveness of different machine-learning models in predicting retinal sensitivity in geographic atrophy (GA) secondary to age-related macular degeneration (AMD) and compare the progression of sensitivity loss using observed versus inferred data over time.</p><p><strong>Methods: </strong>Thirty patients with GA (37 eyes) were recruited for the OMEGA study. Participants underwent fundus-controlled perimetry (microperimetry) and spectral-domain optical coherence tomography (SD-OCT) imaging at baseline and follow-up visits at weeks 12, 24, and 48. Retinal layers were segmented using a custom-written deep-learning algorithm. We used various machine-learning models, including random forest, LASSO regression, and multivariate adaptive regression splines (MARS), to predict retinal sensitivity across three scenarios: (1) unknown patients, (2) known patients at later visits, and (3) interpolation within visits. Predictive accuracy was evaluated using the mean absolute error (MAE), and the models' ability to reduce test variability over time was analyzed using linear mixed models.</p><p><strong>Results: </strong>The random forest model demonstrated the highest accuracy across all scenarios, with an MAE of 3.67 decibels (dB) for unknown patients, 2.96 dB for known patients at follow-up, and 3.10 dB for within-visit interpolation. The inferred sensitivity data significantly reduced variability compared to the observed data in longitudinal mixed model analysis, with a residual variance of 2.72 dB² versus 8.67 dB², respectively.</p><p><strong>Conclusions: </strong>Machine-learning models, particularly the random forest model, effectively predict retinal sensitivity in patients with GA, with patient-specific baseline data improving accuracy for subsequent visits. Inferred sensitivity mapping presents a reliable, functional surrogate endpoint for clinical trials, offering high spatial resolution without extensive psychophysical testing.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"34"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early Peripapillary Choroidal Thinning during Myopia Development: A Potential Biomarker for Progressive Myopia Identified in Tree Shrews. 近视发展过程中的早期乳头周围脉络膜变薄:在树鼩中发现的进行性近视的潜在生物标志物。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.11
Mahmoud T KhalafAllah, Mustapha El Hamdaoui, Preston A Fuchs, Brian C Samuels, Rafael Grytz
{"title":"Early Peripapillary Choroidal Thinning during Myopia Development: A Potential Biomarker for Progressive Myopia Identified in Tree Shrews.","authors":"Mahmoud T KhalafAllah, Mustapha El Hamdaoui, Preston A Fuchs, Brian C Samuels, Rafael Grytz","doi":"10.1167/iovs.66.11.11","DOIUrl":"10.1167/iovs.66.11.11","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to investigate longitudinal thickness changes of the peripapillary tissues in tree shrew eyes with induced high myopia from juvenile age to early adulthood.</p><p><strong>Methods: </strong>Juvenile tree shrews were randomly assigned to either a control group (16 eyes, 8 animals) or a group with binocular -10 diopter (D) lens wear (18 eyes, 9 animals). Refraction, biometry, and optical coherence tomography scans centered on the optic nerve head (ONH) were obtained weekly for 19 weeks. Data were split into three temporal phases representing myopia onset (phase I, week 1), juvenile high myopia development (phase II, weeks 2-5), and sustained high myopia into early adulthood (phase III, weeks 6-19).</p><p><strong>Results: </strong>Most eyes in the myopia group developed and maintained a spherical equivalent (SE) closely matching the lens power (-10.4 ± 2.03 D). Unexpectedly, two animals (n = 4 eyes) developed progressive myopia (-18.2 ± 2.9 D). Notably, eyes with progressive myopia showed rapid choroidal thinning compared to non-progressive eyes (-3.03 ± 0.6%/day vs. -1.64 ± 0.9%/day, P < 0.001) despite comparable SE and axial length changes during phase I. During phase III, these eyes exhibited accelerated thinning of sclera (-0.13 ± 0.01%/day vs. -0.02 ± 0.04%/day, P < 0.001) and choroid (-0.12 ± 0.03%/day vs. -0.02 ± 0.04%/day, P < 0.001). The observed chorioscleral thinning was more pronounced in sectors that are closer to the posterior pole.</p><p><strong>Conclusions: </strong>Sustained negative lens wear can induce progressive myopia in tree shrews. Profound choroidal thinning during early myopia development is a potential biomarker for future chorioscleral thinning, axial elongation, and myopia progression. The asymmetric chorioscleral thinning may contribute to pathologic ONH remodeling and increased glaucoma risk later in life.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"11"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12347244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artesunate Treats Aspergillus fumigatus Keratitis by Inhibiting Fungal Activity and Activating Autophagy Pathway to Reduce Corneal Inflammation. 青蒿琥酯通过抑制真菌活性和激活自噬途径减少角膜炎症治疗烟曲霉角膜炎。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.19
Yuchen Liu, Xue Tian, Cui Li, Jing Lin, Lina Zhang, Qian Wang, Hong Li, Yuqi Li, Xiangzhi Liu, Guiqiu Zhao
{"title":"Artesunate Treats Aspergillus fumigatus Keratitis by Inhibiting Fungal Activity and Activating Autophagy Pathway to Reduce Corneal Inflammation.","authors":"Yuchen Liu, Xue Tian, Cui Li, Jing Lin, Lina Zhang, Qian Wang, Hong Li, Yuqi Li, Xiangzhi Liu, Guiqiu Zhao","doi":"10.1167/iovs.66.11.19","DOIUrl":"10.1167/iovs.66.11.19","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to investigate the therapeutic effect of artesunate (ART) on fungal keratitis (FK).</p><p><strong>Methods: </strong>The antifungal properties of ART against Aspergillus fumigatus (A. fumigatus) were confirmed by minimum inhibitory concentration (MIC), biofilm formation inhibition test, propidium iodide fluorescence, and calcium fluorescence white test. The levels of HSP90, BrlA, AbaA, WetA, CnaA, and CrzA were detected by quantitative reverse transcription PCR (qRT-PCR). Cell counting kit 8 (CCK-8) was used to detect the cytotoxicity of ART on RAW 264.7 cells and human corneal epithelial cells (HCECs). Clinical corneal score, hematoxylin and eosin (H&E) staining, and corneal fungal plate counts were used to evaluate the therapeutic effect of ART on FK in mice. The qRT-PCR, ELISA, and Western blot were used to investigate the effect of ART on inflammatory mediator expression during fungal infection.</p><p><strong>Results: </strong>ART inhibited the growth of A fumigatus, biofilm formation, and conidium adhesion in vitro, and destroyed fungal cell walls and cytomembrane. In vivo, ART effectively reduced corneal fungal load. ART could reduce the inflammation of the cornea by reducing the accumulation of inflammatory cells and down-regulating the expression of TNF-α, IL-1β, and IL-6. ART could activate the autophagy pathway to play an anti-inflammatory role in FK by increasing the expression of Beclin-1 and LC3B.</p><p><strong>Conclusions: </strong>ART inhibits fungal growth by inhibiting biofilm formation, destroying fungal cell walls and membranes, and reducing the expression of HSP90 and calcineurin-related factors, and activates the autophagy pathway to reduce the expression of TNF-α, IL-1β, and IL-6 in FK by upregulating the protein expression of Beclin-1 and LC3B. ART has therapeutic potential for FK.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"19"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12347252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Cholesterol Metabolism on Corneal Endothelial Dysfunction in Patients With Type 1 Diabetes. 胆固醇代谢对1型糖尿病患者角膜内皮功能障碍的影响
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.9
Zhichao Ren, Zongyi Li, Shengqian Dou, Hongran Zhao, Lixin Xie
{"title":"Effects of Cholesterol Metabolism on Corneal Endothelial Dysfunction in Patients With Type 1 Diabetes.","authors":"Zhichao Ren, Zongyi Li, Shengqian Dou, Hongran Zhao, Lixin Xie","doi":"10.1167/iovs.66.11.9","DOIUrl":"10.1167/iovs.66.11.9","url":null,"abstract":"<p><strong>Purpose: </strong>Corneal endothelial dysfunction (CED) in patients with diabetes increases the risk of blindness following intraocular surgery. This study aimed to reveal how diabetes induces CED from the perspective of cholesterol metabolism.</p><p><strong>Methods: </strong>Streptozotocin-induced type 1 diabetic mice and high glucose-cultured B4G12 cells were used as in vivo and in vitro models of diabetes, respectively. Human and mouse corneal endothelium samples were sent for single-cell RNA (scRNA-seq) and RNA sequencing (RNA-seq), respectively. Expression of genes related to cholesterol metabolism and function in corneal endothelial cells (CECs) was detected via RT-qPCR, Western blotting, and immunofluorescence staining. The cholesterol content was detected via filipin. The relationship between cholesterol metabolism and functional genes in CECs was confirmed by SREBF2/SQLE knockdown and cholesterol intervention. The protective effect of cholesterol in vivo was confirmed by anterior segment photography, optical coherence tomography, and Alizarin red staining in the anterior chamber of a model of diabetic mice.</p><p><strong>Results: </strong>Diabetes disrupted the morphology of CECs and promoted corneal edema after intraocular surgery. High glucose conditions downregulated cholesterol biosynthesis and functional genes in CECs. The si-SREBF2, si-SQLE, and cholesterol depletion significantly impaired CEC function. The si-SREBF2 downregulated SQLE, whereas si-SQLE did not significantly affect SREBF2. Supplementation with cholesterol relieved the effect of high glucose on functional gene expression in CECs. Moreover, supplementation with cholesterol relieved corneal edema, reduced corneal thickness, and alleviated shape changes of the anterior chamber in diabetic mice.</p><p><strong>Conclusions: </strong>Diabetes induced CED by inhibiting SREBF2/SQLE-dependent cholesterol biosynthesis, suggesting cholesterol supplementation protects CECs from damage caused by intraocular surgery in patients with diabetes.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"9"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12338372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations Among Sleep Duration, Sleep Quality, and Age-Related Ocular Diseases: Insights From Longitudinal and Mediation Analyses. 睡眠时间、睡眠质量和年龄相关眼部疾病之间的关联:来自纵向和中介分析的见解
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.15
Zhiqian Huang, Chao Chen, Jiaqi Meng, Shuyu Liu, Keke Zhang, Yu Du, Xiangjia Zhu
{"title":"Associations Among Sleep Duration, Sleep Quality, and Age-Related Ocular Diseases: Insights From Longitudinal and Mediation Analyses.","authors":"Zhiqian Huang, Chao Chen, Jiaqi Meng, Shuyu Liu, Keke Zhang, Yu Du, Xiangjia Zhu","doi":"10.1167/iovs.66.11.15","DOIUrl":"10.1167/iovs.66.11.15","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the associations among sleep duration, sleep quality, and age-related ocular diseases, accounting for interactions with systemic inflammation.</p><p><strong>Methods: </strong>A total of 380,182 participants in the UK Biobank were included in this prospective population-based cohort study. The investigated exposures were sleep duration, sleep quality (quantified through an established algorithm comprised of five sleep traits), and traits including insomnia, daytime dozing, chronotype, and snoring. Outcomes were incidences of cataract, primary open-angle glaucoma (POAG), diabetic retinopathy (DR), and age-related macular degeneration (AMD). Cox proportional hazards models were used to estimate the hazard ratios (HRs), with mediation analysis of systematic inflammatory indicators further performed to explore potential mechanisms.</p><p><strong>Results: </strong>During a median follow-up of 12.6 years, 42,971 cataract cases, 5793 POAG cases, 4267 DR cases, and 7775 AMD cases were documented. Sleep duration displayed U-shaped relationships with cataract, POAG, and DR (all P nonlinear < 0.001), identifying 7 hours per day as optimal. Poor sleep quality also elevated the risks of cataract (HR = 1.17; P < 0.001) and POAG (HR = 1.21; P = 0.019), whereas for DR this effect was not significant but suggestive (HR = 1.15; P = 0.082). Sleep behavior traits including insomnia and daytime dozing were found to predict higher risks of these diseases. Mediation analysis indicated significant contributions of inflammatory indicators to the associations of poor sleep quality with cataract and DR.</p><p><strong>Conclusions: </strong>Our findings suggest that sleep patterns might be modifiable risk factors for age-related ocular diseases and highlight the potential value of anti-inflammatory therapies to delay the manifestations of ocular aging.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"15"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12347150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Flavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage. Stargardt病的黄蛋白荧光成像:将代谢应激与结构损伤联系起来。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.12
David A Merle, Veronica Cuevas Villanueva, Giulia Righetti, Ronja Jung, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Krunoslav Stingl
{"title":"Flavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage.","authors":"David A Merle, Veronica Cuevas Villanueva, Giulia Righetti, Ronja Jung, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Krunoslav Stingl","doi":"10.1167/iovs.66.11.12","DOIUrl":"10.1167/iovs.66.11.12","url":null,"abstract":"<p><strong>Purpose: </strong>Stargardt disease (SD) is an inherited retinal disorder that leads to progressive vision loss. Currently, no approved treatments exist. Identifying early metabolic changes in the retina could be critical for the development of new therapies. Flavoprotein fluorescence (FPF) imaging has the potential to serve as a non-invasive biomarker for detecting these early changes before structural damage is evident. Therefore, this study evaluated FPF patterns in patients with SD and correlated these findings with structural imaging modalities, specifically fundus autofluorescence (FAF) and optical coherence tomography (OCT).</p><p><strong>Methods: </strong>This cross-sectional study enrolled 36 subjects with genetically confirmed ABCA4-associated SD between June 1, 2023, and January 31, 2024, at the University Eye Clinic Tübingen, Germany. FPF patterns were qualitatively and quantitatively analyzed and correlated with FAF and OCT findings to identify distinct lesion types.</p><p><strong>Results: </strong>Several distinct lesion types were identified based on FPF signal patterns and their correlation with FAF and OCT findings. Increased FPF signals were primarily associated with outer retinal damage. In some cases, increased FPF was observed in the absence of significant structural changes, indicating early metabolic stress.</p><p><strong>Conclusions: </strong>This study demonstrates that FPF imaging is a promising tool for detecting early metabolic changes in Stargardt disease, potentially serving as a non-invasive biomarker for monitoring disease progression and treatment response. However, current FPF imaging technology is insufficient to discern true FPF signals from lipofuscin-derived fluorescence, making location-specific and FAF comparative analyses imperative and highlighting the need for longitudinal studies.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"12"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12347185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inhibiting The uPA/uPAR Pathway Affords Photoreceptor Resilience and Preserves Retinal Function in a Mouse Model of Retinitis Pigmentosa. 在色素性视网膜炎小鼠模型中,抑制uPA/uPAR通路提供光感受器弹性并保持视网膜功能。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.29
Rosario Amato, Alessio Canovai, Alberto Melecchi, Maria De Fenza, Linda Leone, Vincenzo Pavone, Daniele D'Alonzo, Maurizio Cammalleri, Massimo Dal Monte
{"title":"Inhibiting The uPA/uPAR Pathway Affords Photoreceptor Resilience and Preserves Retinal Function in a Mouse Model of Retinitis Pigmentosa.","authors":"Rosario Amato, Alessio Canovai, Alberto Melecchi, Maria De Fenza, Linda Leone, Vincenzo Pavone, Daniele D'Alonzo, Maurizio Cammalleri, Massimo Dal Monte","doi":"10.1167/iovs.66.11.29","DOIUrl":"10.1167/iovs.66.11.29","url":null,"abstract":"<p><strong>Purpose: </strong>Retinitis pigmentosa (RP) is characterized by primary rod degeneration followed by secondary cone death. The urokinase-type plasminogen activator (uPA) and its cognate receptor (uPAR) have been recently suggested to regulate pro-inflammatory events in RP possibly through the interaction of uPAR with its lateral partners, including formyl peptide receptors (FPRs). This study explored whether the inhibition of the crosstalk between uPAR and FPR1 may counteract photoreceptor degeneration in the rd10 mouse model of RP.</p><p><strong>Methods: </strong>The newly synthetized FPR1 antagonist N-19004 was subcutaneously administered to rd10 mice from post-natal day (PD) 10 to PD 30. The efficacy of N-19004 on retinal function and morphology was evaluated by electroretinogram (ERG) and optical coherence tomography (OCT), respectively. Immunofluorescence and Western blotting for key markers of photoreceptors, immune cells, gliosis, inflammation, oxidative stress, and downstream effectors of FPRs were also performed.</p><p><strong>Results: </strong>N-19004 attenuated retinal dysfunction and mitigated both rod and cone degeneration. N-19004 administration also reduced activation of immune cells, gliosis, inflammation, oxidative stress, and apoptosis. The activation of Akt and ERK1/2 pathways was likely to be involved in the effects of N-19004.</p><p><strong>Conclusions: </strong>N-19004 increases photoreceptor resilience and preserves retinal function in rd10 mice. These effects are likely to be due to an N-19004-mediated reduction of neuroinflammation and oxidative stress, suggesting a novel therapeutic strategy for the treatment of RP.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"29"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12364010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa. 色素性视网膜炎最常见常染色体遗传原因的性别分布。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.77
Mark J Hughes, Tina Lamey, Elena R Schiff, Siying Lin, Terri Mclaren, Jennifer Thompson, Kirk A J Stephenson, Panagiotis Sergouniotis, Nikolas Pontikos, Malena Daich Varela, Mariya Moosajee, Ajoy Vincent, Michel Michaelides, Gavin Arno, Andrew R Webster, Fred K Chen, Omar A Mahroo
{"title":"Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.","authors":"Mark J Hughes, Tina Lamey, Elena R Schiff, Siying Lin, Terri Mclaren, Jennifer Thompson, Kirk A J Stephenson, Panagiotis Sergouniotis, Nikolas Pontikos, Malena Daich Varela, Mariya Moosajee, Ajoy Vincent, Michel Michaelides, Gavin Arno, Andrew R Webster, Fred K Chen, Omar A Mahroo","doi":"10.1167/iovs.66.11.77","DOIUrl":"10.1167/iovs.66.11.77","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to explore whether sex imbalances are detectable in the most frequent genetic causes of retinitis pigmentosa (RP).</p><p><strong>Methods: </strong>Databases from centers in three countries (Moorfields Eye Hospital, London; Hospital for Sick Children, Toronto; and Australian Inherited Retinal Disease Registry, Perth, Australia) were searched, quantifying numbers of male and female patients with disease attributed to variants in the six most frequently involved autosomal RP genes. Proportions of female patients (with 95% confidence intervals [CIs]) were calculated for each gene. Two-tailed binomial testing was performed (Bonferroni corrected threshold, P = 0.008) to investigate whether proportions differed significantly from an underlying male:female ratio of 1:1. For genes where the 95% CI did not include 50%, sex distributions were also explored in previously published cohorts.</p><p><strong>Results: </strong>Our search yielded 1454 patients with disease attributable to variants in USH2A (n = 550), RP1 (n = 277), RHO (n = 246), PRPF31 (n = 158), EYS (n = 124), and MYO7A (n = 99). Proportions of female patients (95% CI) for each gene were 46.2% (42.0-50.5%), 49.5% (43.4-55.5%), 55.3% (48.8-61.6%), 63.9% (55.9-71.3%), 39.5% (31.0-48.7%), and 42.4% (32.7-52.8%), respectively. The 95% CI did not include 50% for PRPF31 and EYS; binomial testing revealed P values of 6.24 × 10-4 and 0.025, respectively. Combining with data extracted from previously published cohorts yielded P values of 1.62 × 10-6 and 0.0084, respectively.</p><p><strong>Conclusions: </strong>We observed a significant preponderance of female patients for PRPF31-associated RP and a preponderance of male patients in those with EYS-associated RP. Our findings suggest that sex is likely to be a modifier affecting penetrance in PRPF31-associated disease and might act in the opposite direction in disease associated with EYS.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 11","pages":"77"},"PeriodicalIF":4.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retraction of: UBE2T/STAT3 Signaling Promotes the Proliferation and Tumorigenesis in Retinoblastoma. UBE2T/STAT3信号的收缩促进视网膜母细胞瘤的增殖和肿瘤发生。
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.56
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引用次数: 0
Erratum in: Calcitonin Gene-Related Peptide Regulates Specific Interferon-Stimulating Genes to Inhibit Apoptosis of Corneal Epithelial Cells in Dry Eye Disease. 降钙素基因相关肽调节特异性干扰素刺激基因抑制干眼病角膜上皮细胞凋亡
IF 4.7 2区 医学
Investigative ophthalmology & visual science Pub Date : 2025-08-01 DOI: 10.1167/iovs.66.11.55
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引用次数: 0
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