Diagnosis is isolated aniridia, and PAX6 gene screening is undertaken which reveals a heterozygous nonsense variant in exon 10, c.781C>T p.(Arg261*). The parents were tested for segregation and this was negative so this is a de novo sporadic mutation. This child should be monitored by a paediatric ophthalmologist who can assess their visual development, referred to a general paediatrician if any concerns about systemic associations such as obesity, ataxia or sleep disorder and, as the vision is reduced, given access to a qualified teacher for children with visual impairment (QTVI) to address their current and future educational needs including their nursery placement. The patient requires regular follow-up to monitor progression of corneal disease, cataract and glaucoma with medical and surgical interventions where needed. Regular refraction and provision of tinted or photochromic lenses are required to reduce light sensitivity. Audiological evaluation may help identify and support early school age children with aniridia-associated central auditory processing deficits.