In summary, this study reported our findings in 21 new CD families with TGFBI mutations, and delineated extensively the TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population: both GCD1 associated with the R555W mutation and GCD2 with the R124H mutation are the most common forms of this disease. This evidence concerns the gene TGFBI and corneal dystrophy.