Abstract:Abstract Objective To identify key oxidative stress-related genes and pathways in the medial rectus (MR) muscle of patients with concomitant exotropia (XT). Methods RNA sequencing was performed on MR muscle specimens obtained from 20 XT patients and 10 healthy controls. Comprehensive bioinformatics analyses were conducted, including the identification of oxidative stress-related differentially expressed genes (OSRDEGs), functional enrichment analysis (Gene Ontology and Kyoto Encyclopedia of Genes and Genomes), protein-protein interaction (PPI) network construction, and receiver operating characteristic (ROC) curve analysis. Key hub genes were validated using reverse transcription-quantitative polymerase chain reaction (RT-qPCR). Results A total of 319 OSRDEGs were identified. Functional enrichment analysis revealed significant associations with the reactive oxygen species metabolic process, response to oxidative stress, and the p53 signaling pathway. PPI network analysis identified five hub genes (IL6, TNF, CD4, PTPRC and ITGAM).?ROC curve analysis demonstrated high diagnostic accuracy of CD4, PTPRC, and ITGAM (AUC > 0.9) in distinguishing XT patients from healthy controls, while IL6 and TNF showed moderate diagnostic accuracy (0.7 < AUC < 0.9). RT-qPCR validation confirmed the significant differential expression of?TNF,?CD4, and?IL6. Conclusion This study highlights the role of oxidative stress in the pathogenesis of concomitant exotropia. The identified hub genes provide new directions for investigating the molecular mechanisms underlying concomitant exotropia.
