Abstract
Purpose :
Biallelic mutations in RPE65 are a cause of Leber Congenital Amaurosis. Voretigene neparvovec is an adeno-associated virus (AAV) vector that has been shown to improve light sensitivity in patients with RPE65-mediated retinal dystrophy. We present early outcomes with new lots of vector that were manufactured for post-FDA approval use.
Methods :
Eight eyes of four patients with biallelic mutations in RPE65 (ages 13-34, visual acuity 20/50-light perception) underwent bilateral subretinal injections of voretigene neparvovec at Massachusetts Eye and Ear. Pre- and post-treatment testing included: visual acuity, full-field light sensitivity threshold, contrast sensitivity, reading speed, Humphrey visual field mean deviation, Goldmann perimetry, ERG, OCT and autofluorescence.
Results :
Following subretinal injections of voretigene neparvovec, full-field light sensitivity threshold improved in all eyes tested (median change 2.3 logs, range 0.7-2.9 logs), including an eye with light perception vision that improved 2.1 logs. Visual acuity and Humphrey visual field mean deviation was either stable or improved in all eyes tested. All patients tolerated the treatment well without complications. In one patient, a subfoveal opacity associated with a subjective central scotoma was observed on POD1, which resolved spontaneously.
Conclusions :
Our data confirm that voretigene neparvovec improves light sensitivity in patients with RPE65-mediated retinal dystrophy over a wide range of disease severity. The magnitude of the effect was variable and may be related to patient-specific factors such as age and baseline visual function.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.