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Visual system homeobox 2 (VSX2) is a paired-like homeodomain transcription factor that plays a critical role in eye organogenesis, specifically in retinal progenitor cell proliferation, differentiation, and the specification and maintenance of bipolar cell identity in the retina. Mutations in VSX2 are causally linked to severe congenital eye defects, such as microphthalmia, through disruption of DNA binding and transcriptional activity required for normal retinal development. VSX2 functions within a complex network of transcription factors—including PAX6, MITF, and OTX2—to both repress and activate gene expression programs that drive retinal cell fate determination and prevent the activation of inappropriate developmental pathways[1][2][3].
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