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Vision Outcomes in Children Treated With Voretigene Neparvovec for RPE65-Associated Retinopathy.
Dorothy A Thompson1,2,3, Elisabeth De Smit1,3, Weijen Tan1,3
1Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
JAMA Ophthalmology
|January 2, 2026
Summary
Voretigene neparvovec (VN) gene therapy improved vision in young children with RPE65 mutations. Pattern visual evoked potentials (VEPs) objectively measured retinogeniculostriate recovery, proving useful for future pediatric trials.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Voretigene neparvovec (VN) is the first gene therapy for RPE65-related retinal dystrophy.
- Assessing vision in young children presents challenges, necessitating objective measures like pattern visual evoked potentials (VEPs).
Purpose of the Study:
- To evaluate vision outcomes and complications of VN treatment in pediatric patients.
- To assess the utility of pattern VEPs as an objective outcome measure in young children.
Main Methods:
- Retrospective case series of 14 children treated with VN at a single UK pediatric hospital.
- Evaluated pretreatment and posttreatment pattern VEPs, visual acuity (VA), full-field stimulus test (FST), optical coherence tomography (OCT), and ocular complications.
Main Results:
- VN treatment showed modest VA improvement, with significant variability when excluding off-chart conversions.
- Pattern VEPs demonstrated clinically meaningful improvement in 70% of patients, with some developing chorioretinal atrophy.
- Complications included transient inflammation (35.7%) and localized atrophy (42.9%).
Conclusions:
- VN can be administered to very young children (as young as 15 months) with RPE65 mutations.
- Pattern VEPs offer a valuable, objective method for assessing visual pathway function in pediatric gene therapy trials.
- Further research is needed to optimize VN outcomes and manage potential complications in children.
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