Since the initial discovery by Munier et al. [2, 3] of mutations in the transforming growth factor-beta induced (TGFBI; formerly designated as BIGH3) gene located on chromosome 5q31 that cause autosomal dominant CDs, several phenotype-specific mutations have been established, which include p. Arg555Trp in granular corneal dystrophy type I (GCD1), p. Arg124His in granular corneal dystrophy type II (GCD2), p. Arg124Cys in lattice corneal dystrophy type 1 (LCD1), p. Arg555Gln in Thiel-Behnke corneal dystrophy (TBCD) and p. Arg124Leu in Reis-Bücklers corneal dystrophy (RBCD) [4]. The gene discussed is TGFBI; the disease is Reis-Bücklers corneal dystrophy.