According to SIFT, Polyphen-2, Provean, and Mutation assessor, the (p. Leu268His) mutation is found to have a deleterious effect on protein function, attributing a pathogenic nature to this missense mutation in VSX1. Furthermore, in our study, this potentially damaging mutation was detected in two families consisting of five affected individuals with a dominant inheritance of KC. Here, VSX1 is linked to keratoconus.