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: Further 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.