Up to now, more than 50 mutations in TGFBI have been proved to be associated with corneal dystrophy, including epithelial basement membrane corneal dystrophy (EBMD, OMIM 121820), Bowman’s layer dystrophies: Thiel-Behnke corneal dystrophy (TBCD, OMIM 602082), Reis-Bücklers corneal dystrophy, and the stromal dystrophies: lattice corneal dystrophy type I (LCD I, OMIM 122200), GCD1, and GCD2. Here, TGFBI is linked to Reis-Bucklers corneal dystrophy.