Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes

PAX6 sequence changes in both families segregated with the anterior segment phenotype and were not observed in controls. Both mutations occur in the paired domain of the PAX6 gene. The crystal structure of DNA-bound PAX6 indicates that residue G36 does not have a role in DNA binding. Therefore the mutation would likely not affect the stability of the paired domain. The importance of the phenotypes reported herein lies in the fact that recognition will allow for appropriate genetic testing and counseling.