Figure 2.

Flow-chart illustrating a suggested strategy for molecular analysis of aniridia cases. The priority is to determine whether there is an underlying WAGR deletion (involving both the PAX6 and WT1 loci), which strongly predisposes to Wilms tumour. In cases where WT1 is not deleted, detection of a PAX6 mutation is less urgent but provides a sound basis for genetic counselling. This diagram is intended to show general principles only – molecular techniques are evolving quickly and the specific approaches mentioned here may be superseded by more efficient and cost-effective methods.