In the present study, nine novel mutations were identified in FNDC3B (c.455C > T:p.P152L), COL4A4 (c.3636_3637del:p.R1212fs), MPDZ (c.5015G > T:p.R1672L; c.3798dupA:p.P1267fs; and c.28G > A:p.A10T), DOCK9 (c.1940C > T:p.P647L), POLG (c.127_128insGGC:p.Q43delinsRQ), IPO5 (c.3019G > A:p.V1007I), and TGFBI (c.624 + 7− > A) in eight of the fifty-two patients with KC of Han Chinese ethnicity. This evidence concerns the gene COL4A4 and keratoconus.