Fig. 1

a The pedigree of the proband. II-1 is the proband and I-2 is the proband's mother. b The proband's phenotype is presented, with a corneal diameter of approximately 8 mm in the right eye, iris defect, wide intercanthal distance, prominent inner eyebrows, small jaw, and a blank expression. c The phenotype of the proband's mother is shown, with iris defects in both eyes, poor vision, small eyes, and downward slanting of the upper eyelids