In the present study, one novel FNDC3B (c.455C > T:p.P152L) mutation and three MPDZ (c.5015G > T:p.R1672L; c.3798dupA:p.P1267fs; and c.28G > A:p.A10T) mutations were identified in Chinese KC patients; this was consistent with former studies and provided strong genetic evidence that variants in these two genes lead to increased susceptibility to KC. This evidence concerns the gene FNDC3B and keratoconus.