FIGURE 1.

Pedigree, genotype, and clinical data of four probands with keratoconus. (A) Pedigree charts. Black symbol indicates affected member, white symbol indicates unaffected individual, gray symbol indicates member with subclinical keratoconus, and dotted symbol denotes variant carrier without any clinical feature. M represents a variant, and + indicates normal allele. The sequence chromatogram with red arrow represents mutant type. (B) Conservation analysis revealed evolutionary conservation of the variants. (C) Predicted three-dimensional structure of proteins.