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Purpose: PACG is a major cause of irreversible blindness worldwide. It is characterised by the mechanical apposition of the iris to the trabecular meshwork, resulting in anterior chamber angle narrowing and obstruction of the aqueous outflow, IOP elevation and subsequent optic neuropathy. EPDR1 was previously identified by GWAS to be a susceptibility locus in PACG, but its role in disease pathogenesis remains unknown. Our lab had previously shown EPDR1 expression in human and mouse lens epithelium, and the aim of our current study is to determine the ocular phenotype of Epdr1 tm1b knockout (KO) mice and elucidate the function of EPDR1 in human lens epithelial cells (HLECs).

Methods: The ocular phenotype of wildtype (WT) and Epdr1-KO mice was determined by serial IOP measurements and anterior segment OCT imaging. The HLEC line B-3 was transfected with an EPDR1 overexpression vector …