Figure 3 of Niel-Butschi, Mol Vis 2011; 17:1192-1202.

Figure 3. Family C. A: Pedigree of the family C included five affected individuals, spanning four generations, with an atypical Thiel-Behnke CD. B: The proband (III.1) at 49 years of age; irregular epithelial thickening with multiple subepithelial and stromal dot-shaped non-coalescent opacities are shown (arrowhead). C: The affected individual IV.1 at 21 years of age; slit-lamp examination revealed multiple dot-shaped (fine arrow) and diffuse opacities only in the sub-epithelial area. D: Electropherograms of exon 11 and 12 of the TGFBI gene are shown. The proband IV.1 has a complex allele composed of a novel change p.Met502Val (c.1504A>G in exon 11) and p.Arg555Gln (c.1664G>A in exon 12). E: Partial amino acid sequence alignment of keratoepithelin for comparison among eleven species.