An apparent genotype–phenotype correlation has emerged from these molecular studies; four distinct heterozygous recurrent mutations were found to be associated with four specific phenotypes: p.R555W in granular corneal dystrophy type 1 (GCD1), p.R124C in lattice corneal dystrophy type 1 (LCD1), p.R124H in granular corneal dystrophy type 2 (GCD2), and p.R555Q in Thiel-Behnke corneal dystrophy (TBCD). This evidence concerns the gene TGFBI and Thiel-Behnke corneal dystrophy.