Integrative Transcriptomic Profiling and WGCNA Reveals Key Genetic Determinants of Strabismus

In this study, we aimed to explore critical biological processes and key genes in intermittent and constant exotropia to elucidate underlying mechanisms and highlight potential therapeutic targets. By analyzing medial rectus muscle samples from non-strabismic donors and patients with constant and intermittent exotropia through RNA sequencing, we employed Weighted Gene Co-expression Network Analysis (WGCNA) to identify gene modules associated with exotropia. Subsequent enrichment analysis and Protein-Protein Interaction (PPI) networks pinpointed significant genes and biological processes, particularly those involved in muscle contraction, visual signal processing, and glucose uptake, including rhodopsin, MYH1, MYH6, and GLUT4. These findings suggest that the dysregulation of these genes and processes may contribute significantly to the manifestation and progression of strabismus, indicating a complex etiology that involves both neurogenic and myogenic factors. This study provides insights into the molecular landscape of strabismus, underscoring the importance of these genetic and biological alterations in its pathogenesis and highlighting the need for targeted research to develop effective therapeutic interventions and improve management strategies.