Figure 2.

Clinical features of aniridia in a patient with a PAX6 mutation. Whole genome DNA sequencing of the PAX6 gene in a female with aniridia and secondary glaucoma detected a tandem inversion (hg19:g.[chr11:31763505-40323405inv;chr11:40323414-43536635inv];[=]) on chromosome 11p13 (panel A) including the PAX6 gene. This inversion moved PAX6 away from a vital enhancer (DRR) (105) that is normally downstream of the PAX6 gene (top, wild-type configuration) to an inactive position millions of base pairs away (bottom, mutant configuration). This patient had an absence of visible iris tissue in both eyes (panel B, right eye; panel C, left eye). The edges of the natural lenses (indicated with black arrows) were visible due to the absence of visible iris tissue. There is bilateral cataract indicated by black arrowheads. Finally, the white arrowheads indicate Ahmed drainage valves that were surgically implanted to control intraocular pressure. This patient has severe secondary glaucoma with a near total cupping of the right optic nerve head (panel D) and a large optic cup with a thin rim of neural tissue remaining on the left optic nerve head (panel E). A normal optic nerve head is shown in panel F for comparison.