A recent study published in the British Journal of Ophthalmology has highlighted promising outcomes for pediatric patients treated with voretigene neparvovec (Luxturna) for RPE65-mediated inherited retinal dystrophy. Conducted at the ophthalmology department of Necker-Enfants Malades University Hospital in Paris, the study demonstrates “significant improvements” in visual function at a 12-month follow-up, marking a critical advancement in treating this debilitating disease.
The retrospective analysis included six male patients, aged 3 to 16, treated with subretinal injections of voretigene neparvovec. Best-corrected visual acuity (BCVA) improved substantially from a mean LogMAR of 1.0 at baseline to 0.6 at 12 months. This translates to a significant enhancement in the ability to perceive light and navigate daily environments for the patients. Notably, this improvement was not linked to structural changes observed in optical coherence tomography (OCT) imaging, suggesting functional gains may precede anatomical recovery.
Postoperative complications were “minimal but notable,” with 11 out of 12 eyes showing atrophy at the injection site. In most cases, the atrophy enlarged slightly over the year but did not hinder the visual improvements. The youngest patient in the cohort experienced more pronounced atrophy, highlighting the need for careful age-based considerations in future treatments. However, the researchers note that “none of the postoperative complications prevented gains in visual function.”
Goldmann visual field analysis showed no significant changes, while central macular and outer nuclear layer thickness remained stable. The researchers attributed these outcomes to optimized surgical protocols and targeted use of the AAV-based gene therapy, which introduces a functional RPE65 gene into retinal pigment epithelial cells, restoring critical visual processes.
