Systemically, it is associated with Wilms’tumour with a reported incidence of 1%,13 genitourinary abnormalities and mental retardation.14 Aniridia has been linked to a mutation in the PAX6 gene onchromosome 11p13.15 Generally, inheritance is in an autosomal dominant pattern and homozygousexpression is lethal in utero.16 Clinically, aniridia presents with reduced vision due to fovealmaldevelopment. The gene discussed is PAX6; the disease is isolated aniridia.