The wide spectrum of PAX6-related anomalies and the fact that aniridia is frequently caused by PAX6 mutations should prompt physicians facing aniridia to perform an examination of the central nervous system (at least with an MRI), an ultrasonography of the kidney and of the urinary pathways, a study of the kidney functions, and most importantly a complete assessment of the pituitary hormones and hypothalamic-releasing hormones. The gene discussed is PAX6; the disease is isolated aniridia.