12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy

Aims To report main outcomes and complications following voretigene neparvovec (Luxturna) treatment in paediatric patients. Methods Records of patients under the age of 17 treated by subretinal administration of voretigene neparvovec for confirmed biallelic RPE65-mediated inherited retinal dystrophy were retrospectively reviewed. Best-corrected visual acuity (BCVA) and data from spectral-domain optical coherence tomography, ultra-wide-field fundus imaging and Goldmann visual field (VF) were analysed at 12 months follow-up. Results 12 eyes of six patients (mean age: 7.8 years) were analysed. No intraoperative complications occurred. BCVA significantly improved at 12-month follow-up (mean LogMAR (logarithm of the minimal angle of resolution) BCVA: 1.0 +/- 0.8 at baseline vs 0.6 +/- 0.3 at 12 months, p=0.001). Mean central macular thickness and central outer nuclear layer thickness did not change at 12 months follow-up. VF V4e isopter did not show significant changes. Postoperatively complications included: elevated intraocular pressure in two eyes of the same patient, a parafoveal lamellar hole at 3 months post-treatment and atrophy on the injection site observed in all eyes except one, which significantly enlarged during 12 months (p=0.008). Conclusions Most paediatric patients treated by voretigene neparvovec showed a significant increase in visual function at 12 months follow-up. None of the postoperative complications prevented gains in visual function.