To conduct a genetic analysis of Han-Chinese patients with isolated congenital ptosis (ICP) and identify the genetic variants related to the condition. Sixty-five unrelated patients with ICP were enrolled. Comprehensive clinical examinations, whole exome sequencing (WES), and Sanger sequencing were used to reveal the potential genetic causes. Combined with public and in-house control databases, multiple bioinformatics prediction tools, and conservation analysis, the potential variants were further analyzed. AlphaFold 3, an accurate modelling prediction tool, was utilized to generate three-dimensional structural models of both wild-type and mutated proteins. Three novel heterozygous variants in the zinc finger homeobox 4 gene (ZFHX4), c.5145C>A (p.N1715K), c.10382C>T (p.A3461V), and c.10795G>A (p.A3599T), were identified in three patients, respectively. Bioinformatics analyses suggested that these variants are likely to exert deleterious effects, supporting their potential involvement in the pathogenesis of ptosis. The novel heterozygous ZFHX4 variants are identified as disease-associated variants in three patients with ptosis, suggesting that ZFHX4 may be a disease-causing gene for autosomal dominant ICP with incomplete penetrance or a susceptibility gene. These findings expand the variant spectrum of ZFHX4, improve understanding of the pathogenesis of ZFHX4-related ptosis, and may contribute to the genetic counseling and disease management, as well as the development of experimental treatments.

To investigate the etiology and clinical characteristics of hospitalized secondary glaucoma (SG) patients in northwestern China. A cross-sectional study was conducted involving SG patients hospitalized between July 2024 and January 2025. Clinical data were collected, including medical history, best-corrected visual acuity (BCVA), intraocular pressure (IOP), slit-lamp examination, gonioscopic findings, and fundus examination. Demographic characteristics, etiological factors, and treatment modalities were analyzed. A total of 67 patients (82 eyes) were enrolled, aged 7 to 90y. Males accounted for 54.0% (36/67), and 22.4% (15/67) of patients had bilateral involvement. The predominant etiologies of SG were neovascular glaucoma (NVG; 25.4%), traumatic glaucoma (23.9%), uveitic glaucoma (20.9%), and lens-induced glaucoma (14.9%), collectively accounting for 85.1% of all cases. The peak age-specific incidence occurred in the 50-59 years age group (32.8%, 22/67), while NVG was prevalent across the 40-79 years age range. IOP of the 82 affected eyes was stratified into five severity tiers: 22-29 mm Hg (15 eyes, 18.3%), 30-39 mm Hg (14 eyes, 17.1%), 40-49 mm Hg (13 eyes, 15.9%), 50-59 mm Hg (20 eyes, 24.4%), and ≥60 mm Hg (20 eyes, 24.4%). The overall mean IOP was 45.2±12.3 mm Hg, indicating a significant pathological elevation. Surgical intervention was required in 46.3% of cases, predominantly for NVG, lens-induced glaucoma, and traumatic glaucoma-conditions prone to rapid IOP elevation. The etiologies with the highest surgical intervention rates were malignant glaucoma, pigmentary glaucoma, lens-induced glaucoma, and NVG. In contrast, uveitic glaucoma cases were primarily managed with targeted anti-inflammatory therapy, which effectively controlled IOP in the early disease stages and potentially obviated the need for surgery. This study identifies NVG, traumatic glaucoma, uveitic glaucoma, and lens-induced glaucoma as the four leading etiologies of SG in Northwestern China. These findings emphasize the critical need for targeted prevention strategies and evidence-based health education programs among high-risk populations. Implementation of such initiatives will improve early detection, enable ophthalmologists to deliver timely therapeutic interventions, and ultimately reduce preventable vision loss in this region.

To explore the causal relationship between several possible behavioral factors and high myopia (HM) using multivariable Mendelian randomization (MVMR) approach and to find the mediators among them with mediation analysis. The causal effects of several behavioral factors, including screen time, education time, time spent outdoors, and physical activity, on the risk of HM using univariable Mendelian randomization (MR) and MVMR analyses were first assessed. Genome-wide association study summary statistics of serum metabolites were also used in mediation analysis to determine the extent to which serum metabolites mediate the effects of behavioral factors on HM. MR analyses indicated that both increased time spent outdoors and a higher frequency of moderate physical activity significantly reduced the risk of HM. Further MVMR analysis confirmed that moderate physical activity independently contributed to a lower risk of HM. Additionally, MR analyses identified 13 serum metabolites significantly associated with HM, of which 12 were lipids and one was an amino acid derivative. Mediation analysis revealed that six lipid metabolites mediated the protective effects of moderate physical activity on HM, with the highest mediation proportion observed for 1-(1-enyl-palmitoyl)-GPC (p-16:0; 30.83%). This study suggests that in addition to outdoor time, moderate physical activity habits may have an independent protective effect against HM and pointed to lipid metabolites as priority targets for the prevention due to low physical activity. These results emphasize the importance of physical activity and metabolic health in HM and underscore the need for further study of these complex associations.

To comprehensively assess the relationship between asthma and myopia based on the National Health and Nutrition Examination Survey (NHANES) database combined with Mendelian randomization (MR). Initially, 20 497 subjects from the complete questionnaire cycle in the NHANES database from 2005 to 2008 were included. By exclusion criteria, 8460 subjects were screened with 1676 myopia samples and 6784 control samples. Subsequently, baseline characteristics, association analyses, risk stratification analyses, and receive operating characteristic curve (ROC) were used to investigate the associations between covariates and myopia. Then, the causal relationship was explored in depth by MR analysis, and was estimated the reliability by sensitivity analyses and directionality tests. Baseline characteristics illustrated a significant difference between myopia and controls for both asthma and covariates (excluding gender; P<0.05). The results in all three models indicated that asthma was strongly associated with myopia and the effect on myopia was not significantly confounded by other covariates [model 3: odd ratio (OR)=1.31; 95%CI=1.07-1.62; P=0.0133]. The risk stratification analysis again verified that asthma remained strongly associated with myopia and was a risk factor for myopia (P<0.05, OR>1). ROC proved that the model was accurate in its prediction [area under curve (AUC)=0.7]. Subsequently, the causal relationship between them was statistically significant (P<0.05) according to the inverse variance weighted (IVW) method in MR. Scatterplot showed that asthma and myopia had significant positive causality and were not affected by confounders. Forest plot displayed an increasing risk of myopia on asthma (OR>1). The funnel plot demonstrated compliance with Mendel's second law. Sensitivity analysis and directional analysis further confirmed the confidence of the MR analysis results and a unidirectional causal relationship between them. A significant association and causality between asthma and myopia is found through the NHANES database and MR analysis, which is important implications for public health policy development and clinical practice.

To evaluate long-term visual field (VF) prediction using K-means clustering in patients with primary open angle glaucoma (POAG). Patients who underwent 24-2 VF tests ≥10 were included in this study. Using 52 total deviation values (TDVs) from the first 10 VF tests of the training dataset, VF points were clustered into several regions using the hierarchical ordered partitioning and collapsing hybrid (HOPACH) and K-means clustering. Based on the clustering results, a linear regression analysis was applied to each clustered region of the testing dataset to predict the TDVs of the 10th VF test. Three to nine VF tests were used to predict the 10th VF test, and the prediction errors (root mean square error, RMSE) of each clustering method and pointwise linear regression (PLR) were compared. The training group consisted of 228 patients (mean age, 54.20±14.38y; 123 males and 105 females), and the testing group included 81 patients (mean age, 54.88±15.22y; 43 males and 38 females). All subjects were diagnosed with POAG. Fifty-two VF points were clustered into 11 and nine regions using HOPACH and K-means clustering, respectively. K-means clustering had a lower prediction error than PLR when n=1:3 and 1:4 (both P≤0.003). The prediction errors of K-means clustering were lower than those of HOPACH in all sections (n=1:4 to 1:9; all P≤0.011), except for n=1:3 (P=0.680). PLR outperformed K-means clustering only when n=1:8 and 1:9 (both P≤0.020). K-means clustering can predict long-term VF test results more accurately in patients with POAG with limited VF data.

To investigate the clinical features and prognosis of patients with orbital inflammatory myofibroblastic tumor (IMT). This retrospective study collected clinical data from 22 patients diagnosed with orbital IMT based on histopathological examination. The patients were followed up to assess their prognosis. Clinical data from patients, including age, gender, course of disease, past medical history, primary symptoms, ophthalmologic examination findings, general condition, as well as imaging, laboratory, histopathological, and immunohistochemical results from digital records were collected. Orbital magnetic resonance imaging (MRI) and(or) computed tomography (CT) scans were performed to assess bone destruction of the mass, invasion of surrounding tissues, and any inflammatory changes in periorbital areas. The mean age of patients with orbital IMT was 28.24±3.30y, with a male-to-female ratio of 1.2:1. Main clinical manifestations were proptosis, blurred vision, palpable mass, and pain. Bone destruction and surrounding tissue invasion occurred in 72.73% and 54.55% of cases, respectively. Inflammatory changes in the periorbital site were observed in 77.27% of the patients. Hematoxylin and eosin staining showed proliferation of fibroblasts and myofibroblasts, accompanied by infiltration of lymphocytes and plasma cells. Immunohistochemical staining revealed that smooth muscle actin (SMA) and vimentin were ‌positive in 100%‌ of cases, ‌while‌ anaplastic lymphoma kinase (ALK) showed ‌positivity in 47.37%‌. The recurrence rate of orbital IMT was 27.27%, and sarcomatous degeneration could occur. There were no significant correlations between recurrence and factors such as age, gender, laterality, duration of the disease, periorbital tissue invasion, bone destruction, periorbital inflammation, tumor size, fever, leukocytosis, or treatment (P>0.05). However, lymphadenopathy and a Ki-67 index of 10% or higher may be risk factors for recurrence (P=0.046; P=0.023). Orbital IMT is a locally invasive disease that may recur or lead to sarcomatoid degeneration, primarily affecting young and middle-aged patients. The presence of lymphadenopathy and a Ki-67 index of 10% or higher may signify a poor prognosis.

To evaluate the efficacy and safety of decellularized conjunctival stroma (DCS) as a novel biomaterial by comparing its grafting outcomes with amniotic membrane (AM) when used for conjunctival reconstruction after primary pterygium excision. This randomized, parallel-controlled study with allocation concealment enrolled 40 patients with primary pterygium. Participants were randomly assigned to two groups using the sealed envelope method: the DCS group (n=20) and the AM group (n=18), receiving DCS and AM grafts respectively. Slit-lamp photography of the operative eyes was performed preoperatively and at 1, 3, 5, 7, 10, 30, 90, and 180d postoperatively. Best-corrected visual acuity (BCVA) and symptom scores were recorded simultaneously. In vivo confocal microscopy was conducted at 3 and 6mo postoperatively. All participants exhibited improved postoperative symptoms. The mean age was 60±9y (male/female ratio: 6/14) in the DCS group and 56±12y (male/female ratio: 7/11) in the AM group. The average epithelial healing time was 9.89±3.54d in the DCS group and 8.17±1.34d in the AM group (P=0.084). One recurrence case was observed in each group. Postoperative graft hemorrhage was significantly more severe in the DCS group than in the AM group only at 30d postoperatively (P=0.011). In vivo confocal microscopy revealed conjunctival epithelial cell growth in both groups at 90d postoperatively, while clear corneo-conjunctival cell boundaries were observed until 180d postoperatively. DCS used in primary pterygium surgery has a safety profile comparable to AM. It promotes rapid postoperative conjunctival healing, achieves a relatively low pterygium recurrence rate, and yields outcomes similar to AM. DCS provides a novel biomaterial option for conjunctival reconstruction after pterygium excision and the treatment of other conjunctival injuries.

To identify early biomarkers associated with glaucomatous visual field (VF) progression in patients with normal-tension glaucoma (NTG). This study included patients were divided into two groups based on disease progression status. Tear samples were collected for proteomic analysis. Data-independent acquisition (DIA) mass spectrometry combined with bioinformatic analyses was performed to identify and validate potential protein biomarkers for NTG progression. Additionally, differentially expressed proteins (DEPs) were evaluated using mediating effect models and receiver operating characteristic (ROC) curve analysis. A total of 19 patients (20 eyes) with NTG participated in this study, including 10 patients (4 males and 6 females; 10 eyes) in the progression group with mean age of 67.70±9.03y and 10 patients (4 males and 6 females; 10 eyes) in the non-progression group with mean age of 68.60±7.58y. A total of 158 significantly differentially expressed proteins were detected. UniProt database annotation identified 3 upregulated proteins and 12 downregulated proteins. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis showed that these DEPs were mainly enriched in pathways such as oocyte meiosis. Gene Ontology (GO) enrichment analysis revealed functional clusters related to cellular processes. Weighted gene co-expression network analysis (WGCNA) indicated that the core proteins were primarily involved in the neurodegeneration-multiple diseases pathway and cellular processes. Mediating effect analysis identified PRDX4 (L) as a potential protein biomarker. ROC curve analysis showed that GNAI1 had the largest area under the curve (AUC=0.889). This study identifies 15 differentially expressed proteins in the tear fluid of NTG patients, including PRDX4 (L). PRDX4 (L) plays a key role in oxidative stress.

To identify metastasis-associated prognostic genes and construct a robust molecular signature for survival prediction in uveal melanoma (UVM) patients. Transcriptomic data and clinical information from 80 UVM patients in the Cancer Genome Atlas (TCGA)-UVM cohort and an external Gene Expression Omnibus (GEO) microarray dataset (GSE73652; 8 non-metastatic vs 5 metastatic cases) were analyzed to identify differentially expressed genes (DEGs). Functional enrichment, protein-protein interaction (PPI) network construction, and survival analyses identified seven metastasis- and prognosis-related genes. Their expression was further examined using public single-cell RNA-seq data (GSE139829; 11 tumors). Experimental validation was performed in UVM cell lines (92.1, OMM1, MEL270) and adult retinal pigment epithelial (ARPE-19) cells using quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting to confirm transcriptomic trends. A LASSO Cox model was applied to construct a metastasis-related risk Score signature. Tumor immune microenvironment characteristics were evaluated via single-sample gene set enrichment analysis (ssGSEA) and ESTIMATE. Somatic mutation and copy number variation (CNV) profiles were also examined. Seven key genes (UBE2T, KIF20A, DLGAP5, KLC3, TPX2, UBE2C, AURKA) were significantly associated with overall survival and used to construct a metastasis-related riskScore signature, which effectively stratified patients into high- and low-risk groups and served as an independent prognostic factor. qRT-PCR and Western blot results confirmed that the expression levels of selected key genes in UVM cell lines showed significant differences compared to ARPE-19 cells, which were largely consistent with the transcriptomic findings. The high-risk group exhibited reduced immune infiltration and stromal activity. Single-cell analysis revealed these genes were predominantly expressed in a tumor cell cluster characterized by BAP1 loss and high metastatic potential. Mutation and CNV analyses further supported the relevance of these genes to UVM progression. This study establishes and validates a seven-gene signature associated with metastasis and prognosis in UVM. The findings provide a framework for understanding molecular determinants of tumor progression and immune microenvironment alterations, and may offer guidance for future mechanistic studies and therapeutic exploration.

To investigate the association between functional outcomes and postoperative patient satisfaction 5y after small incision lenticule extraction (SMILE) and femtosecond laser-assisted in situ keratomileusis (FS-LASIK). This is a cross-sectional study. The patients underwent basic ophthalmic examinations, axial length measurement, wide-field fundus photography, and accommodation function testing. Behavioral habits data were collected using a self-administered questionnaire, and visual symptoms were assessed with the Quality of Vision (QoV) questionnaire. Postoperative satisfaction was also recorded. Totally 410 subjects [820 eyes, 160 males (39.02%) and 250 females (60.98%)] who had undergone SMILE or FS-LASIK 5y ago were enrolled. The mean (standard deviation, SD) age of all patients was 29.83y (6.69). The mean (SD) preoperative manifest SE was -5.80 (2.04) diopters (D; range: -0.88 to -13.75). Patient satisfaction at 5y after undergoing SMILE or FS-LASIK was 91.70%. Patients were categorized into two groups: dissatisfied group and satisfied group. Significant differences were observed between the two groups in terms of age (P=0.012), sex (P=0.021), preoperative degree of myopia (P=0.049), postoperative visual symptoms (frequency, P=0.043; severity, P<0.001; bothersome, P=0.018), difficulty driving at night (P=0.001), and accommodative amplitude (AMP, P=0.020). Multivariate analysis confirmed that female sex (P=0.024), severity of visual symptoms (P=0.009), and difficulty driving at night (P=0.006) were significantly associated with lower satisfaction. The dissatisfied group showed higher rates of starbursts, double or multiple images, and high myopia, but lower age. The frequency, severity, and bothersome of distortion exhibited decreased with increasing age. Patient satisfaction 5y after SMILE and FS-LASIK is high and stable. Difficulty driving at night, sex, and severity of visual symptoms are important factors influencing patient satisfaction. Special attention should be paid to younger highly myopic female patients, particularly those with starbursts and double or multiple images. It is crucial to monitor postoperative visual outcomes and provide patients with comprehensive preoperative counseling to enhance long-term satisfaction.