Figure 3. Family with granular corneal dystrophy, Type 2, in which a spontaneous R124H mutation was added to an already mutated allele, resulting in a change from a heterozygous to a homozygous form. A: A 6-year-old female (proband, homozygous form), dense and confluent opacities with peripheral cornea non-involvement in the stromal layer. B: A 32-year-old male (father of proband, heterozygous form), star- and disc- shaped opacities. C: Pedigree, homozygous R124H mutation (CGC→CAC), heterozygous R124H mutation, and no mutations in the proband, father or mother.