VSX1 and keratoconus: With the development of next-generation sequencing, many potentially pathogenic mutations of VSX1 have emerged, including p.A131P, p.G160V, p.L17P, p.D144E, p.L159M, p.G160D, p.R166W, p.H244R and p.P247R, which were identified in several studies on the genetics of KC and screened from the PubMed database (Héon et al., 2002; Bisceglia et al., 2005; Valleix et al., 2006).