Figure 4.

Photos showing the clinical phenotype of patients with a heterozygous c.1A>G mutation in PAX6. A and B: Complete absence of iris and microcornea (9.5 mm in diameter) was observed in both eyes of the proband, an 18-year-old girl. C and D: A partial defect of the bilateral iris mimicking iris coloboma was present in the proband’s mother, who also had the mutation. E and F: Foveal hypoplasia was observed in the mother (E) and the proband (F). G and H: A flat fovea (G) and optic disc hypoplasia (H) in the mother were demonstrated by optical coherence tomography and Heidelberg retinal tomography, respectively.