Figure 4. Patient 9, without pharmacologic
mydriasis. A, B: In addition to lack of iris, this
patient without detectable PAX6 mutation had anterior lens
opacity, limbal keratopathy (not shown), and foveal hypoplasia. C:
genetic and genomic analyses revealed homozygosity for both a
previously-described heterozygous FOXC1 mutation (p.P279S) and
a for chromosome 11q24.2 deletion (D) while neither unaffected
parent was homozygous for both.