Clinical Study
Eye (2005) 19, 762–764. doi:10.1038/sj.eye.6701642 Published online 10 September 2004
Aniridia and optic nerve hypoplasia
Financial Support received in part from a Research to Prevent Blindness departmental grant.
None of the authors have any proprietary interest.
T J McCulley1, K Mayer2, S S Dahr2, J Simpson3 and E J Holland2
- 1Stanford University, School of Medicine, Department of Ophthalmology, Stanford, CA 94305 USA
- 2The Cincinnati Eye Institute and The University of Cincinnati, School of Medicine, Cincinnati OH, USA
- 3Department of Ophthalmology, College of Medicine, The University of California at Irvine, Irvine CA, USA
Correspondence: TJ McCulley, Stanford University, School of Medicine, Department of Ophthalmology, 300 Pasteur Dr., Rm A157 Stanford, CA 94305, USA. Tel: +1 650 723 5517; Fax: +1 650 498 4222; E-mail: mcculley@stanford.edu
Received 7 January 2004; Accepted 11 May 2004; Published online 10 September 2004.
Abstract
Background
This study evaluates, in patients with aniridia, the prevalence of optic nerve hypoplasia and its association with foveal hypoplasia.
Methods
The medical records of 56 patients with aniridia (31 female, 25 male, mean age 33 years, range 2–74 years) were retrospectively evaluated for optic nerve and foveal hypoplasia. The difference in prevalence of foveal hypoplasia in patients with and without optic nerve hypoplasia was compared using Fisher's exact test.
Results
Six of 56 patients, 10.7% (95% CI: 4.8–21.5%), had optic nerve hypoplasia; hypoplasia was found in both eyes of five binocular patients and in one monocular patient. The prevalence of foveal hypoplasia was higher in aniridia patients with optic nerve hypoplasia than in those without (50.0 vs 6.0%); this difference did not achieve statistical significance (P=0.10).
Conclusions
Clinically apparent optic nerve hypoplasia is found in roughly 10% of patients with aniridia and may occur independently or in association with foveal hypoplasia.
Keywords:
aniridia, optic nerve hypoplasia, foveal hypoplasia, PAX6
