PAX-6 IS NORMAL IN MOST CASES OF PETERS ANOMALY

Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia. Although embryologically similar to aniridia, the cause of Peters' anomaly has received far less attention. Two repo rts have been published demonstrating mutations in the PAX 6 gene in P eters' anomaly, We have analysed the PAX 6 gene in 15 individuals with Peters' anomaly (7 familial, 8 sporadic). This is the largest cohort of Peters' anomaly described. The PAX 6 gene was screened using a comb ination of single-strand conformational polymorphism gel electrophores is and direct sequencing. No mutations were found in the coding region of the PAX 6 gene. We feel that Peters' anomaly is a heterogeneous co ndition and that for the majority of cases PAX 6 is not the 'Peters' a nomaly gene'.