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Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (<i>PAX6</i>) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a <i>PAX6</i> mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a <i>PAX6</i> mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects <i>PAX6</i> to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of <i>PAX6</i> in glucose metabolism and insulin regulation should be further investigated.