Gene therapy outcomes in young patients with RPE65-retinal degeneration.

Gene therapy by subretinal injection of voretigene neparvovec-rzyl (AAV2-RPE65) in patients ≤ 21 years

18 patients aged ≤21 years (mean age 14.6 years) with RPE65-LCA were treated with voretigene neparvovec-rzyl (VN) at a single center, with a mean follow-up of 14.8 months. Full-field light sensitivity (FSTw) improved significantly in 100% of patients (mean gain -2.8 log, i.e., ×256). However, visual acuity (BCVA) and visual field improved in only 11% and 39% of cases respectively. Baseline chorioretinal atrophy was associated with poorer outcomes.

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These real-world results in young patients confirm efficacy on light sensitivity but highlight the limitations regarding visual acuity and visual field — particularly in the context of pre-existing atrophy. The practical message: early intervention, before atrophy develops, is critical to optimize outcomes — which justifies neonatal or presymptomatic genetic screening for RPE65.

Clinical impact: 2/3 · Evidence strength: 1/3 · Novelty: 1/2 · Sample size: 0/1 · Publication status: 0/1 → Total: 4/10