Ophthalmic features of WAGR syndrome: strategies for timely diagnosis, surveillance and improved quality of life

A toddler presented with photophobia and difficulty in focusing on objects since the age of 2 months. Further examination revealed complete aniridia, horizontal jerk nystagmus and a history of genitourinary anomalies. The suspicion of WAGR syndrome, a rare genetic disorder, was raised. Genetic testing confirmed a pathogenic deletion associated with WAGR syndrome, a rare contiguous gene deletion disorder characterised by aniridia, an increased risk of Wilms tumour, genitourinary abnormalities and variable neurodevelopmental involvement. At the most recent follow-up, neurodevelopmental evaluation revealed no developmental concerns. The child received tinted spectacle correction and regular follow-up visits. The family was provided with genetic consultation and educated about the need for ongoing monitoring and renal evaluations. This case emphasises the importance of timely recognition, intervention and genetic counselling to improve outcomes and quality of life for individuals with WAGR syndrome.