Alterations in GRHL2-OVOL2-ZEB1 Axis and Aberrant Activation of Wnt Signaling Lead to Altered Gene Transcription in Posterior Polymorphous Corneal Dystrophy

To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the transcriptome in an affected individuals with an OVOL2 promoter mutation c.307T>C (PPCD1). Cornea endothelial tissue from a patient (P7), age 67, with PPCD were obtained when the patient underwent keratoplasty . The Descemet membrane and endothelium were placed onto a piece of filter paper and submerged in TRI Reagent (Thermo Fisher, Waltham, MA) for RNA isolation. Human cornea tissue from an age-matched donor (C7), age 63, was obtained from an commercial eye bank. Descemet’s membrane and corneal endothelium were stripped from the donor cornea using a published technique and placed into TRI Reagent for RNA isolation.