Emerging Frontiers in Paediatric Retinal Gene Therapy: Lessons from AIPL1-Associated Retinal Dystrophy
The advent of gene augmentation therapy for inherited retinal dystrophies (IRDs) marks one of the most significant therapeutic shifts in paediatric ophthalmology. The approval of voretigene neparvovec for RPE65-mediated retinal dystrophy demonstrated for the first time that genetic diseases causing childhood blindness could be treated rather than merely supported. The pivotal phase 3 trial provided robust evidence of functional visual improvement, particularly in low-luminance mobility, with sustained benefit over several years of follow-up. Real-world paediatric data further corroborated meaningful visual gains after treatment. These results influenced regulatory frameworks, such as the National Institute for Health and Care Excellence (NICE) HST11 guidance, which underlined the importance of sufficient viable retinal cells before gene therapy can be effective.
