Based on these reports and our preliminary data, we hypothesized that RA signaling is functionally impaired in tissues of PEX patients, that this impairment and concomitant alterations in TGF-β signaling are causally involved in PEX-associated fibrosis, and that restoration of RA signaling can prevent or mitigate fibrotic alterations associated with PEX syndrome/glaucoma. Here, TGFB1 is linked to glaucoma.