Investigative ophthalmology & visual science最新文献

{"title":"Erratum in: Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.","authors":"","doi":"10.1167/iovs.66.2.54","DOIUrl":"10.1167/iovs.66.2.54","url":null,"abstract":"","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"54"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457941","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}

{"title":"Stiffness Regulates the Morphology and Stemness of Limbal Niche Cells Through Unique nYAP/cYAP Translocation.","authors":"Xiao Zhou, Lingjuan Xu, Yongyao Tan, Wei Wang, Xiaoyu Huang, Guigang Li","doi":"10.1167/iovs.66.2.43","DOIUrl":"10.1167/iovs.66.2.43","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the effect of matrix stiffness on the morphology and stem characters of maintenance and differentiation of limbal niche cells (LNCs) and the mechanisms involved.</p><p><strong>Methods: </strong>Human LNCs were isolated, cultured, and identified based on published literature, and LNCs from passages 4 to 6 (P4-P6) were used in this study. They were coated with hydrogels of different concentrations to prepare matrices with different stiffnesses, and non-coated plate were used for the control group. Elastic modulus values were determined by atomic force microscopy (AFM). The expression of putative stem cell markers (SOX2, OCT4, PAX6) and fibrosis markers (α-SMA, COL1A1, S100A4) was analyzed by immunofluorescence and quantitative reverse-transcription PCR (RT-qPCR). The intracellular distribution and expression of Yes-associated protein (YAP) and drosophila mothers against decapentaplegic protein family members 2 and 3 (SMAD2/3) accordingly were analyzed using immunofluorescence and western blot.</p><p><strong>Results: </strong>The elastic modulus values of plastic, low-concentration hydrogel-coated surfaces, and high-concentration hydrogel-coated surfaces were 3261.05 ± 172.78 MPa, 30.39 ± 5.84 kPa, and 6.99 ± 4.04 kPa, respectively; thus, they were referred to as the dish, stiff, and soft groups. Using an in vitro model to explore the effect of matrix stiffness on LNCs, we found that a soft substrate could activate YAP to change the morphology and elevate the stemness of LNCs, whereas activation of SMAD2/3 on a stiff substrate decreased nuclear YAP (nYAP) levels, leading to myofibroblast phenotype. Inhibition of SMAD2/3 on stiff substrates partially restored LNC stemness by promoting YAP nuclear translocation.</p><p><strong>Conclusions: </strong>Our findings confirm that matrix stiffness regulates the stemness and differentiation of LNCs through the YAP/SMAD signaling pathway, indicating a potential strategy for the treatment of limbal stem cell deficiency based on LNCs.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"43"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414178","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}

{"title":"Extracellular Matrix Stiffness Modulates Myopia Scleral Remodeling Through Integrin/F-Actin/YAP Axis.","authors":"Xin Liu, Ying Yuan, Yue Wu, Chengcheng Zhu, Yuying Liu, Bilian Ke","doi":"10.1167/iovs.66.2.22","DOIUrl":"10.1167/iovs.66.2.22","url":null,"abstract":"<p><strong>Purpose: </strong>Scleral extracellular matrix (ECM) remodeling and weakened scleral stiffness are characteristic of myopia. The purpose of this study was to investigate the precise underlying mechanisms of scleral remodeling regulated by mechanical signals emanating from the ECM.</p><p><strong>Methods: </strong>The expression and regulation of YES-associated protein (YAP) were confirmed in human samples or guinea pig myopia models by Western blot (WB) or ELISA. To mimic the biomechanical microenvironment associated with myopia, stiff (50 kPa) and soft (8 kPa) substrates were established. The underlying mechanisms were further investigated by quantitative real-time RT-PCR, WB, and fluorescence staining in cells treated with siRNAs, plasmids or inhibitors. In vivo, a YAP activator, inhibitor and F-actin polymerization facilitator were applied to evaluate their therapeutic significance for myopia.</p><p><strong>Results: </strong>Our findings revealed that YAP expression is decreased in the sclera of guinea pigs and humans with myopia. Under mechanical stimuli, YAP functions as a mediator, transducing mechanical signals and modulating collagen expression. Furthermore, integrin α1β1 acts as a regulator of YAP and operates through modification of the F-actin cytoskeleton. Specifically, in response to mechanical forces, integrin α1β1 modulates F-actin restructuring. This modified actin cytoskeletal architecture subsequently facilitates the nuclear translocation of YAP, ultimately leading to the suppression of COL1A1 expression.</p><p><strong>Conclusions: </strong>Our results suggest that the integrin α1β1-F-actin-YAP-COL1A1 axis constitutes a vital regulatory mechanism intrinsically associated with the pathogenesis of myopia.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"22"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364848","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}

{"title":"Inhibition of LRRK2 Ameliorates Aspergillus fumigatus Keratitis by Regulating STING Signaling Pathways.","authors":"Fang Han, Leyi Wang, Jiayin Wu, Lin Shen, Yangyang Li, Hui Guo, Jianqiao Li","doi":"10.1167/iovs.66.2.13","DOIUrl":"10.1167/iovs.66.2.13","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to investigate the role of LRRK2 in the inflammatory response to fungal keratitis (FK) and elucidate the underlying mechanisms.</p><p><strong>Methods: </strong>The protein levels of leucine-rich repeat kinase 2 (LRRK2), p-LRRK2, and stimulator of interferon genes (STING)-related proteins were assessed by western blot analysis. ELISA and quantitative real-time polymerase chain reaction (qRT-PCR) were employed to evaluate the inflammatory response induced by Aspergillus fumigatus. Mass spectrometry was performed to identify the interaction partners of LRRK2. The glutathione S-transferase (GST) pull-down assay and co-immunoprecipitation (co-IP) were used to verify the interaction between LRRK2 and STING. Additionally, fungal load determinations and clinical score assessments were conducted to determine corneal infection in a mouse model.</p><p><strong>Results: </strong>A. fumigatus stimulation promoted the phosphorylation of LRRK2 through Toll-like receptor 2 (TLR2) in human corneal epithelial cells (HCECs) and mouse corneas. LRRK2 overexpression enhanced the A. fumigatus-induced inflammatory response, and LRRK2 knockdown alleviated A. fumigatus keratitis both in vitro and in vivo. Mass spectrometry identified STING as a novel interaction partner of LRRK2. Moreover, A. fumigatus treatment enhanced the interaction between LRRK2 and STING, resulting in the phosphorylation and activation of STING. The phosphorylated STING then triggered its downstream signaling pathways, exacerbating the severity of A. fumigatus keratitis. LRRK2 inhibitor (LRRK2-IN-1) significantly mitigated the inflammatory response and corneal damage caused by A. fumigatus stimulation.</p><p><strong>Conclusions: </strong>LRRK2 inhibition ameliorates A. fumigatus-induced inflammation through modulating STING signaling pathways in both HCECs and mouse models. Our results suggest that targeted inhibition of LRRK2 could be a promising strategy for FK treatment.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"13"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11804891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255607","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}

{"title":"Mapping Protein Distribution in the Canine Photoreceptor Sensory Cilium and Calyceal Processes by Ultrastructure Expansion Microscopy.","authors":"Kei Takahashi, Raghavi Sudharsan, William A Beltran","doi":"10.1167/iovs.66.2.1","DOIUrl":"10.1167/iovs.66.2.1","url":null,"abstract":"<p><strong>Purpose: </strong>Photoreceptors are highly polarized sensory neurons, possessing a unique ciliary structure known as the photoreceptor sensory cilium (PSC). Vertebrates have two subtypes of photoreceptors: rods, which are responsible for night vision, and cones, which enable daylight vision and color perception. Despite the identification of functional and morphological differences between these subtypes, ultrastructural analysis of the PSC molecular architecture between rods and cones is still lacking. This study employed ultrastructure expansion microscopy (U-ExM) to characterize the PSC molecular architecture in canine retina.</p><p><strong>Methods: </strong>Canine neuroretinas (5-mm punches) were fixed in paraformaldehyde solution for either short or long durations. Additionally, 20-µm-thick cryosections from frozen archival retinal tissues fixed using the longer protocol were analyzed. A U-ExM protocol previously developed for mouse retina was adapted to these canine tissues with a battery of specific antibodies that label the various compartments of the PSC.</p><p><strong>Results: </strong>We demonstrated that U-ExM is applicable to both non-frozen and cryopreserved retinal tissues processed with standard paraformaldehyde fixation. Using this validated U-ExM protocol, we revealed the molecular localization of numerous ciliopathy-related proteins in canine photoreceptors. Furthermore, we identified significant architectural differences in the PSC, ciliary rootlet, and calyceal processes between canine rods and cones.</p><p><strong>Conclusions: </strong>U-ExM is a powerful tool for studying the PSC molecular architecture using frozen archival retinas that are processed following standard paraformaldehyde fixation and embedding protocols. The findings gained from this study pave the way for a better understanding of alterations in the molecular architecture of the PSC in canine models of retinal ciliopathies.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"1"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079912","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}

{"title":"Hepatic Satellite Cell Activation and Alteration of Vitamin A Status Are Relevant to the Aggravation of Retinopathy by T2DM.","authors":"Min-Chun Chang, David Pei-Cheng Lin, Han-Hsin Chang","doi":"10.1167/iovs.66.2.7","DOIUrl":"10.1167/iovs.66.2.7","url":null,"abstract":"<p><strong>Purpose: </strong>Type 2 diabetes mellitus (T2DM) leads to diabetic retinopathy (DR) and hepatic impairments. The potential mutual interaction and the intermediator between these two injuries are not well elucidated. Both the retina and liver are involved in vitamin A metabolism, suggesting a potential involvement of vitamin A and its metabolites in this mutual interaction. This study aimed to elucidate the impact of either DR or hepatic impairment on the pathogenesis and vitamin A status of each during injury progression.</p><p><strong>Methods: </strong>A streptozotocin (STZ)-high-fat diet (HFD)-induced T2DM rodent model was applied to examine via electroretinography (ERG) retinal and hepatic histopathology at 0, 12, 16, 20, 24, 28, and 30 weeks after T2DM induction. The levels of retinol in the retina, liver, serum, all-trans-retinal in the retina, and retinyl palmitate in the liver were measured at various time points after T2DM induction.</p><p><strong>Results: </strong>Retinal dysfunction, evidenced by reduced ERG responses, appeared at week 12, followed by photoreceptor and ganglion cell damage after the 16th week. Hepatic impairments began with hepatic stellate cell activation and decreased retinyl palmitate storage, concurrent with reduced retinal retinol and increased all-trans-retinal. Serum retinol levels remained stable, but reductions in transthyretin (TTR) and retinol-binding protein 4 (RBP4) were found, likely disrupting vitamin A transport in the serum.</p><p><strong>Conclusions: </strong>These results provide novel insights into hepatic injury and vitamin A status, implicating both in the aggravation of retinopathy under the influence of T2DM. The current results may raise clinical awareness on hepatic issues and vitamin A involvement during DR progression.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"7"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189322","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}

{"title":"IL-23 Promotes γδT Cell Activity in Dry Eye Disease Progression.","authors":"Yanxiao Li, Zan Luo, Zihao Liu, Xinhao Zhu, Peter S Reinach, Ling Li, Wei Chen","doi":"10.1167/iovs.66.2.10","DOIUrl":"10.1167/iovs.66.2.10","url":null,"abstract":"<p><strong>Purpose: </strong>Conjunctival-resident γδT cells, the predominant ocular source of interleukin-17A (IL-17A), play crucial roles in dry eye disease (DED) pathogenesis. The upstream regulators of these cells are unknown. This study evaluated the role of conjunctival IL-23 expression in mediating γδT cell generation and elucidated its contribution to dry eye inflammatory responses.</p><p><strong>Methods: </strong>Single-cell RNA sequencing (scRNA-seq) was used to identify and quantify conjunctival mRNA molecules in γδT cells in mice. The IL-23 level increased in wild-type (WT) and decreased in γδT-deficient (TCRδ-/-) mice after dry eye was induced via an intelligently controlled environmental system (ICES). Flow cytometry and transcriptome sequencing were used to investigate the impact of the changes in IL-23 expression on human γδT cells.</p><p><strong>Results: </strong>The expression of the IL-23 receptor (IL-23R) was greater in γδT cells than in other conjunctival cell types, such as CD4+ T cells, CD8+ T cells and epithelial cells. An increase in IL-23 led to an increase in γδT cell density, which was proportional to dry eye severity. However, in the TCRδ-/- mice, the upregulation of IL-23 failed to increase the expression level of IL-17A and the severity of dry eye. Furthermore, increases in the expression of IL-23 and the number of γδT cells were evident in the ocular surface cells of patients who developed visual display terminal syndrome.</p><p><strong>Conclusions: </strong>An increase in conjunctival IL-23 expression contributes to the induction of the DED inflammatory response through interactions with its cognate receptor on γδT cells and the promotion of their proliferation. The findings of this study suggest that the suppression of IL-17A through the blockade of IL-23R activation may be a viable target for improving the management of inflammation in DED patients.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"10"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189324","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}

{"title":"Preconception Paternal Alcohol Consumption Elicits Postnatal Changes in Neural Retinas of the Offspring.","authors":"Kofi Owusu-Ansah, Kara N Thomas, Kelsey Cox, Dylan L Pham, Wei-Lin Chen, Michael Lee Ko, Michael C Golding, Gladys Yi-Ping Ko","doi":"10.1167/iovs.66.2.16","DOIUrl":"10.1167/iovs.66.2.16","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to determine the impact of preconception paternal alcohol consumption (PPAC) on retinal function and morphology in PPAC-offspring. Fetal alcohol spectrum disorder (FASD)-related ocular defects caused by maternal alcohol exposure has been well investigated, but the influence of PPAC on offspring eyes remains unknown.</p><p><strong>Methods: </strong>Adult C57BL/6J male mice were exposed to either 10% ethanol or water (control) for six weeks and bred to naïve females. Dark-adapted retinal light responses at two, four, and six months old were assessed using electroretinography (ERG) for the offspring born to PPAC and control males. The thicknesses of whole retinas and different retinal layers of the control and PPAC-offspring were analyzed at two and six months old.</p><p><strong>Results: </strong>Some PPAC-offspring had only one developed eye. ERG a- and b-wave amplitudes were reduced in PPAC-offspring compared to controls, with a more pronounced effect in females. PPAC had significant effects on inner retinal function. At two months old, there was a significant thinning of the retinal inner nuclear and inner plexiform layers in PPAC-offspring. At six months old, the retinal thickness and ERG amplitudes were similar between both treatment groups.</p><p><strong>Conclusions: </strong>This study provides pioneering evidence that PPAC contributes to FASD-related ocular defects including negative impacts on retinal light responses and retinal thinning in young adult offspring. Thus the adverse impact of paternal alcohol consumption prior to conception on their offspring (from childhood to early adulthood) should be considered as seriously as the maternal contribution to FASD.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"16"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255608","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}

{"title":"Behind the Scenes at Investigative Ophthalmology & Visual Science.","authors":"Joseph Carroll","doi":"10.1167/iovs.66.2.19","DOIUrl":"10.1167/iovs.66.2.19","url":null,"abstract":"","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"19"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255603","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}

{"title":"Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.","authors":"Sarah van der Ende, Karen Bedard, Karin Wallace, Michael P Mackley, Mathew Nightingale, Daniel Gaston, M Jill Beis, Marissa A Leblanc, Roxanne Gillett, Alex V Levin, Ian H Clark, Élise Héon, Rajeev H Muni, Elias I Traboulsi, Christopher J Lyons, Christopher R McMaster, Johane M Robitaille","doi":"10.1167/iovs.66.2.23","DOIUrl":"10.1167/iovs.66.2.23","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the gene variant spectrum in patients with familial exudative vitreoretinopathy (FEVR).</p><p><strong>Methods: </strong>Probands clinically diagnosed with FEVR and their relatives were enrolled and clinical information and DNA collected. An expanded FEVR panel was used, including six recognized FEVR genes (FZD4, NDP, LRP5, TSPAN12, ZNF408, and CTNNB1) and 19 genes previously associated with ocular features overlapping FEVR (FEVR-associated genes). Variants identified using targeted next-generation sequencing and/or Sanger sequencing were analyzed and classified using the American College of Medical Genetics and Clinical Genome Resource Sequence Variant Interpretation (ClinGen SVI) working group recommendations to detect disease-causing variants (DCVs).</p><p><strong>Results: </strong>Analyses of data from a cohort of 94 probands provided a molecular diagnosis for 39 (41.5%) probands: 34 (87.2%) had a single DCV, whereas 5 (12.8%) harbored more than 1 DCV. Of 41 total DCVs in solved probands, 33 (80.5%) were in 4 of the 6 recognized genes, LRP5, FZD4, TSPAN12, and NDP, whereas 8 were found in FEVR-associated genes, 6 in KIF11, and 2 (LAMA1 and DOCK6) each in association with a KIF11 DCV. Reanalyzing variants using the latest criteria impacted the variant classification in five probands (5.3%), changing variants that were once deemed likely pathogenic to variants of uncertain significance.</p><p><strong>Conclusions: </strong>The expanded FEVR gene panel detected DCVs in nearly one-half of our cohort. Including the criteria used in classification will improve transparency of variant calls as more data become available. Four FEVR genes account for most cases, and the role of rare FEVR genes and candidate genes requires further study.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 2","pages":"23"},"PeriodicalIF":5.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364858","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}