Molecular VisionPub Date : 2026-02-17eCollection Date: 2026-01-01
Xiaoli Wu, Yan Zhou, Fen Lan, Tao Li, Juan Tang, Guifang Wu, Xingde Liu
{"title":"Nanobacterial detection in aqueous humor and its effect on postphacoemulsification visual acuity among highly myopic patients.","authors":"Xiaoli Wu, Yan Zhou, Fen Lan, Tao Li, Juan Tang, Guifang Wu, Xingde Liu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This study aimed to investigate factors affecting visual outcomes after phacoemulsification in highly myopic patients with cataracts, based on the detection of nanobacteria (NB) in aqueous humor. Fifty highly myopic patients with cataracts who underwent phacoemulsification surgery at The First People's Hospital of Ziyang from December 2022 to June 2023 were enrolled. Aqueous humor samples were gathered from patients before surgery, and NB were isolated and cultured from the aqueous humor. They were identified using scanning electron microscopy and transmission electron microscopy. The calcium-phosphorus ratios in NB cultures (NB group) and nanohydroxyapatite (nHA) cultures (nHA group) were determined by energy-dispersive X-ray spectroscopy. Cell inhibition was compared using a CCK-8 assay. The expressions of calcification-related proteins, bone morphogenetic protein 2, osteopontin, apoptosis-related proteins, B-cell lymphoma 2 (Bcl-2), and Bcl-2-associated X protein in cells were examined by western blot. Based on the best-corrected visual acuity (VA) 3 months after surgery, patients were classified into a normal vision (NV) group (best-corrected VA ≥0.3) and an abnormal vision (AV) group (best-corrected VA <0.3). The factors influencing postoperative VA and efficacy were analyzed. Results revealed that the characteristics of the aqueous humor cultures were consistent with the features of NB described in the literature, with NB measuring approximately 90 to 340 nm in transmission electron microscopy. Energy-dispersive X-ray results indicated no remarkable difference in calcium-phosphorus ratios between the NB and nHA groups (<i>p</i> > 0.05), but the NB group exhibited remarkably stronger cell inhibition relative to the nHA group (<i>p</i> < 0.05). Western blot results revealed obviously higher levels of bone morphogenetic protein 2, osteopontin, and Bcl-2-associated X proteins in the NB group compared to the nHA group (<i>p</i> < 0.05), while Bcl-2 expression was sharply lower, with a great difference in the NB group (<i>p</i> > 0.05). The gap in best-corrected VA 1 month after surgery between the NV group (68%) and the AV group (32%) was obvious (<i>p</i> < 0.05). With increasing recovery time, the number of patients with best-corrected VA ≥0.3 at 6 months postoperatively substantially increased (86%). The NB-positive rate in the aqueous humor samples was observably lower in the NV group than the rate in the AV group (<i>p</i> < 0.05). Univariate logistic regression analysis revealed great differences in age, duration of high myopia, axial length (AXL), corneal astigmatism, incidence of macular disease, and NB-positive rate (<i>p</i> < 0.05). Multivariate logistic regression analysis indicated that AXL and the presence of NB in the aqueous humor were independent factors influencing the postoperative visual prognosis of highly myopic patients with cataracts (<i>p</i> < 0.05). The experimental results signified that NB cultures suppressed c","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"84-100"},"PeriodicalIF":1.8,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13098718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.","authors":"Di Zhu, Yuxi Zheng, Yi Jiang, Dongwei Guo, Yingwei Wang, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, J Fielding Hejtmancik, Qingjiong Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Inherited diseases characterized by abnormal corneal morphology include cornea plana, megalocornea, keratoconus and brittle cornea syndrome. This study aims to investigate genes responsible for these diseases.</p><p><strong>Methods: </strong>Variants in genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome were analyzed and characterized by multistep bioinformatics approach based on three large data sets, including our in-house exome sequencing database from patients with inherited eye diseases, literature review, and gnomAD database. Additionally, the phenotypes of patients carrying these variants were collected.</p><p><strong>Results: </strong>125 variants in six genes, namely <i>KERA</i> (Keratocan; OMIM: 603288), <i>CHRDL1</i> (Chordin-like 1; OMIM: 300350), <i>VSX1</i> (Visual system homeobox 1; OMIM: 605020), <i>TUBA3D</i> (Tubulin, alpha-3d; OMIM: 617878), <i>ZNF469</i> (Zinc finger protein 469; OMIM: 612078), and <i>PRDM5</i> (PR domain-containing protein 5; OMIM: 614161), have been reported in 244 families by literature review, of which 78 with cornea plana, 38 with megalocornea, 67 with keratoconus, and 61 with brittle cornea syndrome. Three variants in <i>KERA</i> were identified in 2 families with cornea plana in our cohort. Moreover, all reported variants in <i>VSX1</i> were reclassified as likely benign or benign based on several major evidence, including high allelic frequency in gnomAD, presence in unaffected individuals in in-house data set, and relatively tolerated by multiple computational prediction tools. Misinterpreted variants in <i>VSX1</i> has been detected in up to 3.13% of the general population.</p><p><strong>Conclusions: </strong>This study delineates the genetic and clinical landscape of cornea plana, megalocornea, keratoconus and brittle cornea syndrome for the first time. The pathogenicity of <i>VSX1</i> variants could not be confirmed, making <i>VSX1</i> an unlikely candidate gene for keratoconus. Correct classification of genes like <i>VSX1</i> is critical in the era of genomic medicine.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"70-82"},"PeriodicalIF":1.8,"publicationDate":"2026-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Review: The role of microglia in diabetic retinopathy and its potential as a therapeutic target.","authors":"Wen Liu, Jieyu Jiang, Wenwen Li, Zhiming Liu, Xiangdong Chen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Diabetic retinopathy (DR) is a common and severe complication of diabetes, which poses a serious threat to vision, and its pathogenesis is complex. Inflammatory response plays a crucial role in the progression of DR, but currently, anti-vascular endothelial growth factor therapy, the preferred treatment for DR, only targets the vascular part. Therefore, determining a treatment method targeting the inflammatory response in DR is an important step in addressing DR. As immune cells within the retina, microglia play a key role in the inflammatory response in DR, which is a crucial link in its pathogenic mechanism. By regulating the inflammatory response of microglia, the progression of DR can be effectively slowed down. This review deeply explores the mechanism of action of microglia in DR by reviewing relevant research achievements and evaluates the potential of treatment strategies targeting microglia in slowing down the progression of DR. The study focuses on how to further optimize the treatment regimen for DR by regulating different pathways such as the release of inflammatory factors, the occurrence of oxidative stress, phenotypic transformation, intercellular interactions, and phagocytic activity of microglia, providing important clues for the development of novel treatment methods for DR. Through a comprehensive analysis and evaluation of the effectiveness and safety of these treatment strategies, the study aims to provide more precise and effective treatment regimens for patients with DR, so as to improve their visual prognosis and quality of life.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"49-68"},"PeriodicalIF":1.8,"publicationDate":"2026-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2026-02-04eCollection Date: 2026-01-01
Liam M Ashander, Yuefang Ma, Genevieve F Oliver, Binoy Appukuttan, Cameron D Haydinger, Steven Yeh, Glenn A Marsh, Justine R Smith
{"title":"Molecular responses of human retinal pigment epithelial cells to ebolavirus VP24.","authors":"Liam M Ashander, Yuefang Ma, Genevieve F Oliver, Binoy Appukuttan, Cameron D Haydinger, Steven Yeh, Glenn A Marsh, Justine R Smith","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Uveitis (inflammation inside the eye) is a disabling manifestation of the post-Ebola syndrome that affects 10% to 35% of individuals who survive the infection. Post-Ebola uveitis presents with diverse clinical features but frequently involves the posterior segment of the eye, where the retinal pigment epithelium plays a key role in directing immune responses. Our previous work shows that this epithelium is relatively susceptible to infection with <i>Zaire ebolavirus</i> (EBOV), the strain responsible for most Ebola outbreaks. In addition to production roles, viral proteins may act to alter the molecular responses of host cells.</p><p><strong>Methods: </strong>We investigated the activity of EBOV viral protein 24 (VP24) in human retinal pigment epithelial cells. An EBOV VP24 expression plasmid was constructed in-house. Multiple primary cell isolates were lipofectamine-transfected, first with VP24 or control expression plasmids and then with polyinosinic-polycytidylic acid (poly I:C) to simulate viral RNA. A type I interferon (IFN) response to transfection was confirmed by an IFN-β enzyme-linked immunosorbent assay. Cellular immune responses after 4- and 24-h exposures to poly I:C were characterized by reverse transcription-quantitative polymerase chain reaction.</p><p><strong>Results: </strong>Multidimensional scaling, drawing on 19 immune response-related gene transcripts, covering antiviral, immunomodulatory, and proinflammatory molecules, demonstrated changes in gene expression profiles following transfection. Analysis of individual cell isolates showed a range of changes, including upregulation and downregulation of different gene transcripts across the two investigated time points.</p><p><strong>Conclusions: </strong>Our findings suggest VP24 elicits variable immune responses from human retinal pigment epithelial cells, potentially contributing to the variation in clinical presentations of uveitis in Ebola survivors.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"34-48"},"PeriodicalIF":1.8,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2026-01-20eCollection Date: 2026-01-01
Beatriz G Armendariz, David Kent
{"title":"Submacular tissue repair and fibrosis in neovascular macular degeneration: A predictable outcome secondary to a chronic age-related endotheliopathy.","authors":"Beatriz G Armendariz, David Kent","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fibrosis is strictly a histopathological term that refers to the replacement of functional tissue with permanent deposition of nonfunctional extracellular matrix (ECM), following an injury or disease, and can occur in any tissue in the body. In this histological setting, there is no overt difference between fibrosis and scarring. However, in the clinical context, fibrosis tends to be associated with chronic disease, as it ensures ongoing ECM deposition. This could be considered \"excessive\" when compared to ECM deposition in acute or end-stage chronic disease. This perspective highlights how fibrosis in neovascular age-related macular degeneration follows a stereotypical tissue repair process similar to that seen in other tissues and how salient biologic processes, such as aging and metabolic health, impact fibrosis development. In addition, we highlight the emerging and pivotal profibrogenic role played by progressive endothelial cell (EC) dysfunction, together with secondary blood flow impedance in the neovasculature. This results in abnormal vascular permeability, endothelial-to-mesenchymal transition, and EC senescence-associated secretory phenotype, processes that could potentially be targeted therapeutically. Finally, the dramatic impact of anti-vascular endothelial growth factor therapy, by primarily targeting permeability of the nascent microvasculature, on the natural history of fibrosis in neovascular age-related macular degeneration indirectly highlights the potentially significant role of ECs in fibrosis development and points toward how novel future targeting of these cells could further modulate the development of fibrosis.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"22-32"},"PeriodicalIF":1.8,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2026-01-20eCollection Date: 2026-01-01
Gehad Elmakkawy, Amira Nabil, Karim Nabil, Asmaa Kenawy Amin, David Maskill, Manir Ali, Daniel Schorderet, Nader Bayoumi, Nihal Shakankiri, Ebtesam Abdalla
{"title":"Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.","authors":"Gehad Elmakkawy, Amira Nabil, Karim Nabil, Asmaa Kenawy Amin, David Maskill, Manir Ali, Daniel Schorderet, Nader Bayoumi, Nihal Shakankiri, Ebtesam Abdalla","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population.</p><p><strong>Methods: </strong>We studied a cohort of 34 patients from 31 unrelated families affected by the A/M spectrum. All patients underwent a thorough clinical examination, ophthalmological assessment, and genetic testing including conventional karyotyping and exome sequencing (ES).</p><p><strong>Results: </strong>Chromosomal anomalies were identified in six patients. ES was performed on the remaining cases, revealing potentially causative variants in 13 families. The implicated genes were <i>SOX2</i>, <i>OTX2</i>, <i>CHD7, HMX1, PRR12, ATOH7, ZBTB11, B3GALNT2, GCNT2</i>, <i>DPH1</i>, <i>GJA8, FRAS1</i> and <i>UBE3B</i>. Among the variants, six were classified as pathogenic, five as likely pathogenic, and two as variants of uncertain significance. Notably, a <i>DPH1</i> pathogenic variant was identified in a patient with bilateral severe microphthalmia, representing a novel phenotype. Additionally, we report the fifth family diagnosed with oculo-auricular syndrome.</p><p><strong>Conclusions: </strong>Our findings confirm that genetic factors are a predominant cause of both syndromic and non-syndromic A/M and underscore the value of ES in uncovering the molecular basis of this spectrum. By reporting novel variants and unusual phenotypes within our cohort, we contribute to expanding both the mutational landscape and the phenotypic spectrum of A/M associated syndromes.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"32 ","pages":"1-20"},"PeriodicalIF":1.8,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2025-12-31eCollection Date: 2025-01-01
Hirohiko Kakizaki, Heebae Ahn, Muhammad Abumanhal, Derrick Lian, Kan Ishijima, Hidenori Mito, Naoyuki Morishige
{"title":"Reticular fiber distribution in sclera: Key to understanding pathologic myopia and posterior staphylomas.","authors":"Hirohiko Kakizaki, Heebae Ahn, Muhammad Abumanhal, Derrick Lian, Kan Ishijima, Hidenori Mito, Naoyuki Morishige","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize the distribution of reticular fibers in the human sclera and explore their potential role in the pathogenesis of pathologic myopia and posterior staphyloma.</p><p><strong>Methods: </strong>Central sagittal sections of 13 globes (6 right eyes and 7 left eyes) were obtained from 12 East Asian cadavers aged 38-94 years (mean age: 74.9 years). Three scleral regions were examined: the pars plana, 3:00-3:30 clock-hour position, and 5:00-5:30 clock-hour position. Specimens were fixed in 10% formalin and stained with silver nitrate. ImageJ software was used for image processing and quantification of fiber density.</p><p><strong>Results: </strong>Reticular fiber density exhibited considerable inter- and intraindividual variability. The average densities at the pars plana, 3:00-3:30, and 5:00-5:30 were 31.07%, 26.10%, and 22.70%, respectively. Density ranges were 23.46%-58.51% (pars plana), 19.18%-43.07% (3:00-3:30), and 13.48%-50.95% (5:00-5:30). In 10 eyes, the pars plana showed the highest density, followed by 3:00-3:30 and then 5:00-5:30. Two eyes had the lowest density at 3:00-3:30, while one eye exhibited the highest density in this region.</p><p><strong>Conclusions: </strong>Reticular fiber density in the sclera exhibits considerable interindividual variability. Our findings suggest that regions of structural vulnerability within the sclera may extend beyond the posterior pole, potentially offering new insights into the pathogenesis of posterior staphyloma. A reduction in reticular fiber density may be implicated in the progression of pathologic myopia and the development of posterior staphylomas, although further investigation is warranted to substantiate this association.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"31 ","pages":"584-595"},"PeriodicalIF":1.8,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2025-12-31eCollection Date: 2025-01-01
Lixin Zhang, Yan Guo
{"title":"Monocyte/macrophage-derived IL-15 activates STAT5 to trigger the EFNA1/NCOA2-positive feedback loop, facilitating retinal angiogenesis in high-glucose environments.","authors":"Lixin Zhang, Yan Guo","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic retinopathy (DR) is of the most prevalent complications among diabetic patients. The potential role of interleukin 15 (IL-15) in modulating immune cell function and angiogenesis has drawn considerable attention. Nevertheless, the precise mechanism through which IL-15 operates in DR remains elusive.</p><p><strong>Methods: </strong>The GSE185011 and GSE221521 data sets were harnessed to screen for upregulated genes in the blood and peripheral blood mononuclear cells (PBMCs) of patients with DR. The GSE236333 and GSE179568 data sets were used to identify upregulated genes in retinal tissues. In the clinical investigation, IL-15 was detected in T and B lymphocytes, as well as in monocytes/macrophages within the PBMCs of patients. Human retinal microvascular endothelial cells and human umbilical vein endothelial cells were either cocultured with the monocyte/macrophage cell line THP-1 under high-glucose (HG) conditions or treated with IL-15.</p><p><strong>Results: </strong>Among the three cell types in PBMCs, monocytes/macrophages exhibited the most substantial upregulation of IL-15 under HG conditions. In vitro, IL-15 secreted by THP-1 cells augmented the STAT5 in human retinal microvascular endothelial cells and human umbilical vein endothelial cells, thereby enhancing their angiogenic potential. Inhibition of STAT5 expression counteracted the proangiogenic effect of IL-15 on endothelial cells and diminished the expression of epithelial cell adhesion molecule 1 (EFNA1). After the knockdown of nuclear receptor coactivator 2 (NCOA2), the binding affinity of STAT5 to the EFNA1 gene promoter was significantly attenuated, and the influence of IL-15 on EFNA1 expression and angiogenesis was markedly reduced. Intriguingly, knockdown of either EFNA1 or NCOA2 led to a concurrent decrease in the expression of both genes in endothelial cells, suggesting a positive feedback regulatory loop between them.</p><p><strong>Conclusions: </strong>IL-15 secreted by monocytes/macrophages activates STAT5, which in turn induces a positive feedback regulation of the EFNA1/NCOA2 axis, ultimately promoting retinal angiogenesis under HG conditions.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"31 ","pages":"597-616"},"PeriodicalIF":1.8,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Molecular VisionPub Date : 2025-12-30eCollection Date: 2025-01-01
Jie Peng, Yina Wang, Jiaqing Lu, Ying Wang, Yongning Dong, Jie Fang, Xu Chen
{"title":"SNTB1 gene polymorphisms and risk of high myopia: meta-analysis and single-center validation.","authors":"Jie Peng, Yina Wang, Jiaqing Lu, Ying Wang, Yongning Dong, Jie Fang, Xu Chen","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Genetic polymorphisms in syntrophin beta-1 (SNTB1) have been implicated in altering protein function or expression, potentially influencing ocular growth regulation. Genome-wide association studies (GWASs) suggest that specific <i>SNTB1</i> variants may correlate with high myopia susceptibility across diverse populations. However, findings remain inconsistent, highlighting the need for further investigation into population-specific genetic effects and underlying mechanisms.</p><p><strong>Methods: </strong>Accordingly, the PubMed and Wanfang databases were searched for articles published until June 1, 2025, using the keywords <i>SNTB1</i> or <i>syntrophin beta-1</i>, <i>polymorphism</i>, and <i>myopia</i> or <i>shortsightedness</i>. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to examine the association. The <i>SNTB1</i> rs6469937 polymorphism genotypes were identified with the TaqMan assay.</p><p><strong>Results: </strong>Four related studies were conducted to better understand the association between <i>SNTB1</i> gene polymorphisms and high myopia risk. The <i>SNTB1</i> rs4455882 site was associated with a decreased overall high myopia risk (e.g., G vs. A; OR = 0.815; 95% CI, 0.688-0.984; <i>p</i> <sub>heterogeneity</sub> = 0.465; <i>p</i> = 0.017). Similar trends were detected in the rs4395927 site (e.g., T vs. C; OR = 0.791; 95% CI, 0.670-0.935; <i>p</i> <sub>heterogeneity</sub> = 0.199; <i>p</i> = 0.006) and rs6469937 site (e.g., A vs. G; OR = 0.811; 95% CI, 0.697-0.944; <i>p</i> <sub>heterogeneity</sub> = 0.030; <i>p</i> = 0.007). Furthermore, high myopia patients carrying the <i>SNTB1</i> rs6469937 AA+AG genotypes exhibited pronounced increases in serum levels of <i>SNTB1</i> compared to the GG genotype (<i>p</i> < 0.01) but showed an opposite trend compared to genotype-matched normal controls (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>The current study suggested that the <i>SNTB1</i> rs4455882, rs4395927, and rs6469937 polymorphisms may be potential influencing factors of high myopia. Furthermore, the rs6469937 polymorphism may offer value as a candidate variant requiring validation that can aid in the early identification and prognostic evaluation of high myopia.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"31 ","pages":"570-582"},"PeriodicalIF":1.8,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pseudomyopia and cycloplegic changes in young cynomolgus macaques.","authors":"Guitong Ye, Yuan Zhang, Kezhe Chen, Rui Xie, Wei Liu, Chiwai Wong, Jinan Zhan, Ruiyu Luo, Shaofen Huang, Xiaohua Zhuo, Jian Wu, Yunxia Leng, Yehong Zhuo, Min Fu, Yingting Zhu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Primate eyes feature a physiologic accommodative system identical to that of humans. Nonetheless, their biometric changes before and after cycloplegia have not been investigated. In this study, we aimed to evaluate the characteristics of pseudomyopia and explore factors associated with cycloplegic changes in young cynomolgus macaques.</p><p><strong>Methods: </strong>Refractive and biometric measurements were performed on both eyes before and after cycloplegia in 88 cynomolgus macaques aged 3-6 years without ocular diseases. Pseudomyopia was defined as autorefraction-estimated noncycloplegic spherical equivalent (NSE) < -0.50 D and cycloplegic spherical equivalent (CSE) ≥ -0.50 D. Linear mixed models were established to identify factors associated with cycloplegic differences.</p><p><strong>Results: </strong>After excluding low-quality ophthalmic data, 149 eyes were included in the final analysis. The median NSE was -0.38 (interquartile range: -1.50, 0.25) D and the median CSE was 0.13 (-0.50, 0.90) D, exhibiting a robust Pearson's correlation coefficient of 0.89 (95% confidence interval: 0.78-0.92). Pseudomyopia was observed in 35 of the 149 eyes, with a greater hyperopic shift (median, 1.42 D) compared to that in non-myopic and true-myopic eyes (median, 0.50 D for both, p<0.001). Pseudomyopic eyes demonstrated active accommodation before cycloplegia and exhibited biometric changes after cycloplegia akin to those in true-myopic eyes. Under cycloplegia, non-myopic and pseudomyopic eyes exhibited similar biometric measurements. A greater hyperopic shift correlated with a higher hyperopic NSE and greater reductions in lens thickness.</p><p><strong>Conclusions: </strong>The use of 1% cyclopentolate yielded discernible alterations in refractive and biometric parameters in 3- to 6-year-old cynomolgus macaques. Notably, compared with non-myopia and true myopia, pseudomyopia exhibited associations and discrepancies in accommodative status. These findings underscore the importance of investigating the role of the lens in animal models employed in myopia research.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"31 ","pages":"539-552"},"PeriodicalIF":1.8,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}