Figure 4. Case D at 80 years of age. A: Representative images of corneal opacities (arrowhead) seen in the right eye of case D, at 80 years of age. B: Electropherograms around the codon 613 in exon 14 of the TGFBI gene. The patient is heterozygous for a novel mutation, thymine to guanine substitution at position 1828 (c. 1828T>G), causing the p.Val613Gly amino acid exchange. C: Partial amino acid sequence alignment of keratoepithelin with ten of its orthologs. The boxes indicate valine at position 613 in the human protein.