Aniridia with Preserved Visual Function: A Report of Four Cases with No Mutations in PAX6

Purpose: To report four patients with aniridia, preserved visual function, and no detectable mutations in PAX6. Design: Retrospective case series. Methods: The clinical records and molecular genetic findings of four patients from three clinical practices were reviewed retrospectively. Results: All four patients had anterior segment findings characteristic of aniridia with good vision, no nystagmus in three of four patients, and no mutations on PAX6. An optical coherence tomography study from one of the patients showed a very shallow foveal pit. At the latest examination, none of the patients demonstrated a Wilms tumor. Conclusions: These four cases provide evidence for genetic heterogeneity in aniridia. In aniridic patients without a PAX6 mutation, vision seems to be relatively well preserved.