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. Here, PAX6 is linked to Autosomal dominant optic atrophy, classic type.