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.