Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

Figure 3

Ocular characteristics of the patients with ARS. (a) Patient 1, in whom both eyes showed megalocornea and complete and partial aniridia and the cornea was centrally opaque, perhaps due to oedema associated with elevated IOP. (b) Patient 2, whose ocular manifestations included microcornea, iris atrophy, and core metamorphosis, iris adherent to cornea, and trabecular meshwork with peripheral corneal opacity in both eyes. (c) Patient 3, who exhibited microcornea, corectopia, core metamorphosis, peripheral corneal opacity in both eyes, and slit pore formation for bilateral iris atrophy. (d) Patient 4, who exhibited microcornea and iris hypoplasia. The pupil was stretched, and corneal oedema was observed in the left eye.

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