Pathogenic mutations in the TGFBI gene have been implicated in various phenotypes depending on the degree of damage to the corneal layer, such as Thiel-Behnke corneal dystrophy (TBCD, OMIM 602,082), Reis-Bucklers corneal dystrophy (RBCD, OMIM 608,470), Groenouw granular corneal dystrophy type I (CDGG1), lattice corneal dystrophy I and IIIA (LCD1, OMIM 122,200 and LCD3A, OMIM 608,471) and corneal dystrophy with epithelial basement membrane (EBMD, OMIM 121,820) [15, 16]. The gene discussed is TGFBI; the disease is Reis-Bucklers corneal dystrophy.