Current Eye Research最新文献

{"title":"Integrating Retinal Segmentation Metrics with Machine Learning for Predictions from Mouse SD-OCT Scans.","authors":"Maide Gözde İnam, Onur İnam, Xiangjun Yang, Qun Zeng, Gülgün Tezel","doi":"10.1080/02713683.2025.2456783","DOIUrl":"10.1080/02713683.2025.2456783","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to initially test whether machine learning approaches could categorically predict two simple biological features, mouse age and mouse species, using the retinal segmentation metrics.</p><p><strong>Methods: </strong>The retinal layer thickness data obtained from C57BL/6 and DBA/2J mice were processed for machine learning after segmenting mouse retinal SD-OCT scans. Twenty-two models were trained to predict the mouse groups. The best neural network model was optimized for better outcomes. Prediction accuracy, the area under the curve, sensitivity, specificity, precision, and F-1 score values were obtained.</p><p><strong>Results: </strong>The Wilcoxon Signed-Rank test provided significantly higher validation accuracy for neural networks than decision trees, discriminant analysis, support vector machines, and k-nearest neighbor classifiers (<i>p</i> = 0.005 for all). For C57BL/6-DBA/2J classification, a mean validation accuracy of 88.11 ± 3.92% (95% CI: 86.99-89.22) was achieved for the neural network when the optimized neural network had 92.31% final test accuracy with an area under the curve value of 0.9762, 94.44% sensitivity, 90.48% specificity, 89.47% precision, and 0.92 F-1 score. The optimized neural network model for age group differentiation had a final test accuracy of 82.05% with a 0.9064 area under the curve value, 77.27% sensitivity, 88.24% specificity, 89.47% precision, and 0.83 F-1 score.</p><p><strong>Conclusions: </strong>These findings validate that machine learning, using segmentation metrics instead of images, can effectively analyze retinal OCT scans in mice for categorical predictions in experimental models. Expanding this approach with additional features, including histopathological and functional correlations, is expected to improve the prediction power further, promising valuable applications to predict more complex outcomes in experimental and clinical studies.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028131","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}

{"title":"Meta-Analysis of the Association Between <i>VEGF</i>-2578C/A Polymorphism and Susceptibility to Type 2 Diabetic Retinopathy.","authors":"Dingyong Wu, Wanting Li","doi":"10.1080/02713683.2025.2451616","DOIUrl":"https://doi.org/10.1080/02713683.2025.2451616","url":null,"abstract":"<p><strong>Purpose: </strong>to investigate the association between vascular endothelial growth factor (<i>VEGF)</i>-2578C/A polymorphism and susceptibility to type 2 diabetic retinopathy (T2DR) by meta-analysis.</p><p><strong>Methods: </strong>According to the search strategy, Four databases were retrieved to identify the literature on the relationship between <i>VEGF</i> polymorphism and the risk of T2DR from inception to July 2024. Stata 15.0 was used for data processing.</p><p><strong>Results: </strong>Ten articles were involved in this review, covering 1390 cases and 1306 controls. The pooled results exhibited that the risk of T2DR was associated with <i>VEGF</i>-2578C/A polymorphism under the allele model (A/C: OR= 1.33, 95%CI: 1.04-1.72, <i>p</i> = 0.025) and dominant models (AA+CA/CC: OR= 1.38, 95%CI: 1.00-1.91, <i>p</i> = 0.047). However, in recessive, homozygous, and heterozygous models, no significant difference was observed (all <i>p</i> > 0.05).</p><p><strong>Conclusions: </strong>The <i>VEGF</i>-2578C/A polymorphism is associated with susceptibility to T2DR. In particular, allele A and genotype AA+CA at the <i>VEGF</i>-2578C/A locus were significantly associated with an increased risk of T2DR.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022489","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}

{"title":"Cohesin Complex Interacting with Promoters of MMP Genes for in Pterygium Occurrence.","authors":"Shichao Han, Wei Zhu, Qianqian Guo","doi":"10.1080/02713683.2025.2452919","DOIUrl":"https://doi.org/10.1080/02713683.2025.2452919","url":null,"abstract":"<p><strong>Purpose: </strong>Pterygium is a common ocular surface disease characterized by a high recurrence rate and unknown etiology.</p><p><strong>Methods: </strong>In this study, we investigated the upregulation of matrix metalloproteinase genes, including MMP1, MMP2, MMP3, MMP7, MMP9, MMP11, MMP12, MMP13, MMP23B, and MMP28, in pterygium tissue using RNA sequencing, Western blotting, and immunohistochemistry.</p><p><strong>Results: </strong>Employing the MEME tool, we identified a conserved DNA motif within the promoter regions of these matrix metalloproteinase genes. Mass spectrometry analysis revealed an interaction between the cohesin complex and this motif. Disrupting the cohesin complex through RNA interference of RAD21 cohesin complex component or structural maintenance of chromosomes 3 in primary pterygial fibroblasts led to decreased matrix metalloproteinase gene expression and reduced recruitment of twist family bHLH transcription factor 1 and transcription factor 4 to matrix metalloproteinase gene promoters.</p><p><strong>Conclusion: </strong>Overall, our findings suggest a novel epigenetic mechanism regulating matrix metalloproteinase transcription in pterygium.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001530","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}

{"title":"Relationship of Angle Kappa with Ocular Parameters using Swept-Source Ocular Coherence Tomography in Cataract Surgery Patients.","authors":"Mayank A Nanavaty, Margarita Safir, Laura McLaughlin, Joy White","doi":"10.1080/02713683.2025.2452915","DOIUrl":"https://doi.org/10.1080/02713683.2025.2452915","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the relationship between angle kappa (apparent chord mu) and ocular parameters in cataract patients.</p><p><strong>Methods: </strong>In this cross-sectional study, the data on apparent chord mu, age, axial length, anterior chamber depth, anterior and posterior mean keratometry, mean total keratometry, white-to-white, central corneal thickness and lens thickness were collected for consecutive cataract patients. Correlation (Pearson) between chord mu and the other ocular parameters was calculated. A stepwise backward multiple regression analysis was performed to identify the combination of ocular parameters strongly correlating to chord mu.</p><p><strong>Results: </strong>Two thousand four hundred and sixty-four eyes (1232 patients) were included in this study. The mean age was 72.7 ± 12.7 years (18-97 years). Univariate analysis showed a significant positive correlation of chord mu to age (<i>R</i> = 0.06, <i>p</i> = .01), lens thickness (<i>R</i> = 0.12, <i>p</i> < .01), mean keratometry (<i>R</i> = 0.08, <i>p</i> < .01), and mean total keratometry (<i>R</i> = 0.08, <i>p</i> < .01). Whereas there was a significant negative correlation with white-to-white (<i>R</i> = -0.04, <i>p</i> = .03), axial length (<i>R</i> = -0.19, <i>p</i> < .01), and anterior chamber depth (<i>R</i> = -0.2, <i>p</i> < .01). Male gender (<i>R</i> = -0.04, <i>p</i> = .05) and central corneal thickness (<i>R</i> = 0.04, <i>p</i> = .06) were not significantly correlated. Multivariate stepwise backward regression analysis showed a combination of four factors (female sex, reduced axial length and anterior chamber depth and steep mean keratometry) significantly related to chord mu (angle kappa).</p><p><strong>Conclusion: </strong>Female gender, reduced axial length and anterior chamber depth, and higher mean keratometry correlate to apparent chord mu (angle kappa) in cataract patients. These findings can help identify vulnerable patients who can have appropriate counseling on the prognosis of postoperative optical and visual outcomes.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982918","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}

{"title":"Topical Netarsudil in Childhood Glaucoma: A Systematic Review.","authors":"Omar Shaikh, Lana Kuziez, Osamah J Saeedi, Javaneh Abbasian, Abdelrahman M Elhusseiny","doi":"10.1080/02713683.2024.2445622","DOIUrl":"https://doi.org/10.1080/02713683.2024.2445622","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the effectiveness and safety of topical netarsudil 0.02% in managing childhood glaucoma.</p><p><strong>Methods: </strong>A literature search in the electronic databases of PubMed CENTRAL, Google Scholar, EMBASE, the Register of Controlled Trials, and Ovid MEDLINE from January 2017 to August 2023 using one or a combination of the following terms: \"netarsudil,\" \"rhopressa,\" \"Rho-kinase,\" \"pediatric glaucoma,\" \"childhood glaucoma,\" \"intraocular pressure\" was conducted.</p><p><strong>Results: </strong>Eight publications (four retrospective studies, one prospective study, and three case reports) were identified evaluating the outcomes of topical netarsudil in childhood glaucoma. Six publications were conducted in the United States, and two publications were conducted in India. Studies included a heterogeneous cohort of primary and secondary childhood glaucoma with a variable range of follow-up (1 week-26 months). The mean IOP reduction after the initiation of topical netarsudil 0.02% in childhood glaucoma patients varies from 0.8 ± 13.2 to 12.0 ± 0.0 mmHg. The most common ocular adverse event was conjunctival hyperemia, seen in 27 out of 82 eyes (32.9%), followed by corneal honeycombing/reticular epithelial edema, seen in 13 out of 82 eyes (15.9%).</p><p><strong>Conclusion: </strong>Limited literature is currently available on using topical netarsudil in childhood glaucoma. However, in children with refractory glaucoma on maximum topical medications, netarsudil may serve as an adjunctive treatment option, potentially delaying the need for further surgical interventions in some patients. Careful corneal examination is needed before and after initiation of netarsudil treatment for early detection of corneal adverse events that may compromise the vision.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920794","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}

{"title":"Long-Term Evaluation of Patients with Neurotrophic Keratopathy Undergoing Staged Keratoplasty After Corneal Neurotization.","authors":"Alfonso Strianese, Valentino de Ruvo, Giuseppe Giannaccare, Federico Bolognesi, Federico Biglioli, Fabiana Allevi, Filippo Tarabbia, Marco Pellegrini, Angeli Christy Yu, Niccolò Salgari, Alessandro Lozza, Luca Rossetti, Massimo Busin, Paolo Fogagnolo","doi":"10.1080/02713683.2024.2396379","DOIUrl":"10.1080/02713683.2024.2396379","url":null,"abstract":"<p><strong>Purpose: </strong>Corneal neurotization (CN) is a novel, potentially curative surgical procedure for the treatment of neurothophic keratopathy (NK). Patients with severe NK can present with corneal opacification requiring optical keratoplasty, which would likely fail without a proper trophic support of corneal nerves in the recipient cornea.</p><p><strong>Methods: </strong>This is a pilot study on 4 patients undergoing keratoplasty after CN. Pre- and postoperative data at 12, 24 months and at the last follow-up were collected for the examination of (i) best corrected visual acuity (BCVA), (ii) slit lamp examination and photograph acquisition with and without fluorescein staining, (iii) corneal aesthesiometry, (iv) <i>in vivo</i> confocal microscopy of the central cornea. Neurophysiological study of the corneal reflex before corneal graft and at last follow up was performed.</p><p><strong>Results: </strong>Four female patients (47.25 ± 5.06 y.o.) underwent keratoplasty after CN (3 penetrating keratoplasty, 1 deep anterior lamellar keratoplasty). The mean interval between CN and keratoplasty was 22 (± 12) months. The mean graft survival time was 42 (± 25) months. Graft follow-up ranged from 72 to 132 months. At the final follow-up, BCVA was improved in 2 out of 4 patients. The mean corneal sensitivity was 11.9 ± 8.3 mm at last follow-up. <i>In vivo</i> confocal microscopy confirmed the presence of functioning nerves at the last follow-up in all patients. NK-related complications occurred in 3 eyes (2 persistent epithelial defect, 1 corneal melting). The former complication was successfully treated by autologous serum eye drops while the latter required repeated keratoplasty.</p><p><strong>Conclusions: </strong>Keratoplasty is a viable strategy to improve visual acuity in patients with corneal opacity who underwent CN for the treatment of NK. Even in the presence of functioning corneal nerves before keratoplasty, surgeons should be aware of the increased rate of NK-related complications that could require the need for repeated procedure.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"18-22"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153351","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}

{"title":"Retinal Toxicity Assessment Following Vitreoretinal Surgery: A Comparison of Silicone Oil and Perfluoropropane Tamponade Using Diopsys^® NOVA^™.","authors":"Sadık Altan Ozal, Murat Karapapak, Ece Ozal, Serhat Ermis, Serkan Guler, Hakan Baybora, Serife Ciloglu Hayat, Yusuf Cem Yılmaz","doi":"10.1080/02713683.2024.2394118","DOIUrl":"10.1080/02713683.2024.2394118","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to assess and compare the retinal toxicity associated with silicone oil (SO) and perfluoropropane (C3F8) tamponade following vitreoretinal surgery for fresh rhegmatogenous retinal detachment (RRD), utilizing the office-based Diopsys^® NOVA^™ system for evaluation.</p><p><strong>Methods: </strong>Patients who underwent vitreoretinal surgery for fresh RRD and had SO (group 1) or C3F8 (group 2) tamponade were included in a prospective analysis. Flicker full field electroretinography (ffERG) and pattern electroretinography (PERG) tests were performed at 6 months postoperatively.</p><p><strong>Results: </strong>Postoperative best corrected visual acuity (logMAR) was significantly different in group 1 and group 2 patients, 0.48 ± 0.3 and 0.30 ± 0.2, respectively. No significant disparities were found in demographic variables. Flicker ffERG and PERG recordings revealed notable alterations in retinal function parameters in the group 1 compared to the group 2.</p><p><strong>Conclusion: </strong>Our findings suggest a correlation between SO tamponade and retinal dysfunction, evidenced by office-based ERG measurements. The Diopsys^® NOVA^™ protocol offers clinical ease in assessing retinal function. Further controlled studies are essential to validate these findings and guide clinical practice effectively.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"87-92"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105173","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}

{"title":"Evaluation of Choroidal Thickness and Retinal Vessel Density with Serum HIF-1α and TNF-α Level in Patients with OSAS.","authors":"Busra Sagir, Murat Okutucu, Medeni Arpa, Hüseyin Findik, Feyzahan Uzun, Mehmet Gokhan Aslan, Ünal Şahin, Muhammet Kaim","doi":"10.1080/02713683.2024.2386355","DOIUrl":"10.1080/02713683.2024.2386355","url":null,"abstract":"<p><strong>Purpose: </strong>To reveal changes in choroidal thickness, retinal vessel density, and serum HIF-1α and TNF-α levels in obstructive sleep apnea syndrome (OSAS) and their correlation.</p><p><strong>Methods: </strong>This prospective case-control study included 118 patients divided into mild-to-moderate OSAS (<i>n</i> = 40), severe OSAS (<i>n</i> = 39), and a control group (<i>n</i> = 39). Choroidal thickness was evaluated with OCT, vessel density with OCTA, AHI index with polysomnography, and serum HIF-1α and TNF-α levels were analyzed using the enzyme-linked immunosorbent assay.</p><p><strong>Results: </strong>The serum HIF-1α values of the participants in the mild-moderate OSAS and severe OSAS groups were [893.25(406.7-2068) and 1027(453-2527), respectively], and were both significantly higher than the control group [(521.5(231.6-2741))] (<i>p</i> < 0.001). Serum TNF-α levels did not differ significantly between the groups (<i>p</i> = 0.051).). Subfoveal choroidal thickness (SFCT) values of the severe OSAS groups were significantly lower than the control group (<i>p</i> < 0.05). The superficial and deep capillary plexus vascular density (SVD and DVD) values of the severe OSAS group were lower than the control group (<i>p</i> < 0.05). Serum HIF-1α and TNF-α levels of all participants were negatively correlated with both their SVD values (<i>p</i> < 0.05, r: -0.220 and <i>p</i> < 0.05, r: -0.252, respectively) and their DVD values (<i>p</i> < 0.001, r: -0.324 and <i>p</i> = 0.001, r: -0.299, respectively).</p><p><strong>Conclusions: </strong>Increased serum levels of inflammatory mediators (HIF-1α ve TNF-α) in OSAS cause a decrease in SFCT, SVD, and DVD, which is an indication of systemic vascular damage. Further research on developing treatment strategies to modulate TNF-α ve HIF-1α may help recede vascular morbidity in OSAS patients.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"66-73"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906171","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}

{"title":"ASPP2 Upregulation as a Novel Approach to TGF-β2-Induced Proliferative Vitreoretinopathy <i>In Vivo</i> and <i>In Vitro</i>.","authors":"Xiaoli Chen, Yankun Yue, Haiwei Wang, Lu Liu","doi":"10.1080/02713683.2024.2388686","DOIUrl":"10.1080/02713683.2024.2388686","url":null,"abstract":"<p><strong>Purpose: </strong>Proliferative vitreoretinopathy (PVR) can cause blindness and the pathogenesis is unclear. Transforming growth factor (TGF)-β-induced epithelial-mesenchymal transition (EMT) of RPE cells is vital. P53 protein 2 (ASPP2) was previously reported to inhibit EMT in PVR rats, but the specific mechanism is unveiled.</p><p><strong>Methods: </strong>TGF-β was used to induce EMT in ARPE-19 cells, and evaluated by immunofluorescence and western blot. ARPE-19 cells were transfected with scrambled/ASPP2-lentivirus, followed by TGF-β treatment. After that, alterations of EMT and autophagy were measured by western blot and transmission electron microscopy. Moreover, TGF-β and ARPE-19 cells treated with scrambled/ASPP2-lentivirus were employed to establish the PVR model <i>via</i> intravitreal injection to SD rats, and retinal changes as well as EMT and autophagy activity were evaluated accordingly.</p><p><strong>Results: </strong>ASPP2 expression was decreased during TGF-β-induced EMT in ARPE-19 cells. <i>In vitro</i>, EMT and autophagy was activated by TGF-β, which could be partly reversed by ASPP2 upregulation. <i>In vivo</i>, ASPP2 upregulation protected against structural and functional changes in PVR retinas. Additionally, expressions of EMT and autophagy markers in retinas were inhibited by ASPP2 upregulation.</p><p><strong>Conclusions: </strong>ASPP2 upregulation inhibited the EMT and autophagy process caused by TGF-β in ARPE-19 cells. Correspondingly, upregulation of ASPP2 alleviated intraocular fibrosis and protected visual function in PVR rats.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"74-81"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901198","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}

{"title":"Age-Related Macular Degeneration and Its Genetic Risk: A Population-based Study.","authors":"Davide Garzone, Mohammed Aslam Imtiaz, Matthias M Mauschitz, N Ahmad Aziz, Frank G Holz, Monique M B Breteler, Robert P Finger","doi":"10.1080/02713683.2024.2388692","DOIUrl":"10.1080/02713683.2024.2388692","url":null,"abstract":"<p><strong>Purpose: </strong>Specific genetic factors might serve as markers for risk stratification of AMD progression, but their association with key features of AMD has not been fully elucidated. Thus, we investigated the association between overall and pathway-specific genetic risk scores (GRS) and lead loci (<i>ARMS2, CFH</i>) with AMD stages and features of high-risk nonlate AMD, including reticular pseudodrusen (RPD) and large drusen area (LDA).</p><p><strong>Methods: </strong>We performed a cross-sectional analysis of data from the Rhineland Study, a population-based study in Bonn, Germany. We included 4016 individuals aged 50 years and older of European descent. GRS and pathway-specific subscores were constructed based on a large genome-wide association study of AMD. Subscores were generated based on gene-pathways associations (complement, extracellular matrix remodeling (ECM) and lipid metabolism). Associations were assessed using logistic and multinomial regression.</p><p><strong>Results: </strong>The mean age of participants was 63.36 years and 1813 (45.1%) were men. The GRS was positive in 48.1% of individuals and increased, but did not fully overlap, across AMD stages. Pathway-specific subscores increased across AMD stages except for the ECM subscore, which only showed a trend for increasing in late AMD. Increasing overall GRS was associated with RPD and LDA (OR [95%CI] for RPD: 1.70 [1.33-2.15], for LDA: 1.64 [1.29-2.07]) among individuals with AMD. Similarly, higher complement and ECM subscores was associated with RPD, while for LDA, only an association with complement subscore was observed.</p><p><strong>Conclusions: </strong>In a population-based setting, we confirmed higher genetic risk to be associated with more severe AMD and identified associations with high-risk features of intermediate AMD. Conjoint analyses suggested that high-risk features and late AMD might be differentially associated with genetic architecture in AMD, such as ECM remodeling. Incorporation of genetic information such as GRSs might improve AMD risk prediction strategies.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"82-86"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999566","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}