Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.

@article{Traboulsi2008AniridiaWP,
  title={Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.},
  author={Elias I. Traboulsi and Jay Ellison and Jonathan Sears and Irene Hussels Maumenee and John M. Avallone and Brian Mohney},
  journal={American journal of ophthalmology},
  year={2008},
  volume={145 4},
  pages={760-4}
}
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… CONTINUE READING