P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

ABSTRACT: Myopia represents a refractive anomaly characterized by impaired vision resulting from a misfocused image in front of the fovea. Although numerous genes linked to high myopia (HM) have been identified, the exact etiology and pathogenesis mechanisms of HM remain predominantly obscure. In a prior investigation, a mutation in the P4HA2 gene was identified in association with HM. To illuminate the potential mechanisms of action of P4HA2 in HM, we established a P4HA2-knockout mouse line (P4ha2 ^-/-) and a P4HA2-knockout HEK293 cell line for this study. P4ha2 ^-/- mice exhibited compromised visual acuity and altered light transmission pathways as evidenced by multiple biometric assessments. Furthermore, we observed a time-dependent disruptio

SUBMITTER: Liu Y 

PROVIDER: S-EPMC12933143 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature