Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Figure 2

Phenotypic variations in individuals with PAX6 p.Ile190SerfsTer17. mutation. Anterior segment photographs of the right and left eyes of individuals with the PAX6 NM_000280.4(PAX6):c.565TC>T frameshift mutation showed phenotypic variation. Patient III-8 (a) at 31 years of age had almost complete iris hypoplasia with small remnant stumps (arrowheads), intraocular lenses, and corneal pannuses with neovascularization (arrows) in both eyes. In the left eye, the corneal pannus was associated with underlying stromal scarring. Patient IV-4 (b) at 5 years of age, prior to placement of glaucoma drainage devices, had corneal pannuses with neovascularization (arrows) and corneal epithelial irregularities in both eyes. Patient IV-4 also had almost complete iris hypoplasia with small remnant stumps (arrowheads) in both eyes. Patient III-11 (c) at 2 months of age, prior to penetrating keratoplasty, had bilateral central corneal opacities consistent with Peters anomaly (arrows) with the opacity of the right eye much denser than the left eye. However, patient III-11 exhibited only partial iris hypoplasia (arrowheads) in both eyes.