Interestingly, 1 patient who clinically had WAGR syndrome had a frameshift mutation (found by exon-level targeted comparative genomic hybridization) which affected PAX6, but did not involve ELP4, DCDC1, or WT1. This patient presented at 4 months of age with bilateral partial aniridia with an iris stump, bilateral posterior polar cataracts, foveal hypoplasia, mild optic nerve hypoplasia, and roving-type nystagmus; he reacted equally to light in both eyes and IOP was 12 mmHg and 13 mmHg in the right and left eyes, respectively. The gene discussed is PAX6; the disease is WAGR syndrome.