PPIP5K2 and keratoconus: Using WES data from a second KC-affected family with four selected individuals (Fig. 1D, KC: 301 and 303; controls: 201 and 202, indicated by the black arrow), we identified another nonsynonymous variant (rs781831998, c.2528 A > G, p.Asn843Ser, N843S) in the PPIP5K2 gene with a global MAF of 0.00006 in the GnomAD database.