Congenital aniridia is a condition that causes improper development of eye structures as well as abnormalities in the brain and pancreas.
A variety of nonsense mutations in the PAX6 gene are linked with aniridia; however, despite understanding the genetic basis of the disease, few treatment and prevention strategies are available. In this issue of the Journal of Clinical Investigation, Cheryl Gregory-Evans and colleagues at the University of British Columbia evaluated a small molecule nonsense suppression strategy for relief of aniridia-associated defects in a mouse model of the disease. The authors developed a formulation of the nonsense suppression drug ataluren that could be given topically to postnatal aniridia mice. Administration of their ataluren-based formulation inhibited disease progression, reversed eye deformations, and restored eye function in aniridia mice. In an accompanying commentary, José-Alain Sahel and Katia Marazova of the Institut de la Vision suggest that ataluren administration should be further explored as a therapeutic option for treatment of congenital eye defects associated with nonsense mutations.