In this study, three novel mutations (c.95 G > A in LOX, c.1372 C > T in COL5A1 and c.476 C > T in TIMP3) leading to the following amino acid substitutions P32L, P458S and S159F, were recognized in a Chinese Han population of 53 keratoconus (KC) patients. The gene discussed is COL5A1; the disease is keratoconus.