In the UK, a six-year-old girl’s sight has improved following Luxturna (voretigene neparvovec) treatment in both eyes for RPE65-related Leber congenital amaurosis (LCA).
Saffie Sandford was diagnosed with LCA aged five after her parents noticed she struggled to see in the dark, said a Great Ormond Street Hospital (GOSH) statement. Saffie received treatment in her first eye in April 2025 and her second eye in September that same year. Her mother, Lisa, said Saffie’s night vision and peripheral daylight vision have since improved, allowing the family to go trick-or-treating and out to restaurants in the evening.
Separately, GOSH and University College London researchers reported in JAMA Ophthalmology that a case series of 14 children (27 eyes) with RPE65-associated retinopathy were treated with Luxturna between February 2020 and December 2023. The children’s median treatment age was 6.88 years and median follow-up was 3.42 years. Visual acuity improved from logMAR 1.00 to 0.76 across the cohort. However, when four off-chart visual-acuity conversions were excluded, the change was less than one line – from logMAR 0.74 to 0.71. Reliable full-field stimulus testing was completed in only three eyes, highlighting the difficulty of assessing vision outcomes in very young children, the authors said.
The clearest objective signal in the series came from pattern visual evoked potentials (VEPs), a non-invasive electrophysiology test measuring signal transmission from the retina to the visual cortex. All 10 tested children completed pattern VEP assessment; seven showed clinically meaningful improvement, two worsened with localised chorioretinal atrophy and one remained unchanged. Complications included transient inflammation in five children and localised atrophy in six.
The findings support pattern VEPs as an objective outcome measure for paediatric retinal gene therapy trials, the researchers said.
