Phenotypic Variability in a Large Aniridia Pedigree with a Novel PAX6 1410delC Mutation. J.L. Dickinson¹, J.E. Craig², M. Sale¹, S. Nicholls¹, J. Love³, I. Hanson³, S.J. Matthews², D.A. Mackey^1,2. 1) Menzies Centre, University of Tasmania, Australia; 2) Centre for Eye Research Australia, University of Melbourne, Australia; 3) MRC Human Genetics Unit, Edinburgh, Scotland.

   Purpose: To investigate phenotypic variability with a mutation in the PAX6 gene. Methods: 11 affected individuals in a 3 generation pedigree were examined. Anterior segment and fundus photographs, automated perimetry and IOP measurement were performed. Results: Mutation analysis revealed a single base deletion 1410delC in the PAX6 gene. Affected individuals ranged from total aniridia to minimal anterior segment findings. Other findings included keratitis, cataract, glaucoma, disc anomalies and foveal hypopolasia. Conclusions: A novel mutation in the PAX6 gene is associated with considerable phenotypic variation. Pedigrees such as this may be useful to identify other genes responsible for anterior segment development.