Gerhardt, Maximilian J. and Priglinger, Claudia S. and Rudolph, Guenther and Hufendiek, Karsten and Framme, Carsten and Jaegle, Herbert and Salchow, Daniel J. and Anschuetz, Andreas and Michalakis, Stylianos and Priglinger, Siegfried G. (2023) Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis. BIOMEDICINES, 11 (1): 103. ISSN , 2227-9059
Full text not available from this repository. (Request a copy)Abstract
Leber congenital amaurosis caused by mutations in the RPE65 gene belongs to the most severe early-onset hereditary childhood retinopathies naturally progressing to legal blindness. The novel gene therapy voretigene neparvovec is the first approved causative treatment option for this devastating eye disease and is specifically designed to treat RPE65-mediated retinal dystrophies. Herein, we present a follow-up of the youngest treated patients in Germany so far, including four pre-school children who received treatment with voretigene neparvovec at a single treatment center between January 2020 and May 2022. All patients underwent pars plana vitrectomy with circumferential peeling of the internal limiting membrane at the injection site and subretinal injection of voretigene neparvovec. Pre- and postoperative diagnostics included imaging (spectral domain optical coherence tomography, fundus autofluorescence, fundus wide-angle imaging), electrophysiologic examination (ERG), retinal light sensitivity measurements (FST) and visual acuity testing. Behavioral changes were assessed using a questionnaire and by observing the children's vision-guided behavior in different levels of illumination. All children showed marked increase in vision-guided behavior shortly after therapy, as well as marked increase in visual acuity in the postoperative course up to full visual acuity in one child. Two eyes showed partial electrophysiological recovery of an ERG that was undetectable before treatment-a finding that has not been described in humans before.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RECESSIVE RETINITIS-PIGMENTOSA; RETINAL DYSTROPHY; VISUAL FUNCTION; RPE65; MUTATIONS; CHILDHOOD; MODEL; CONE; EYE; ISOMERASE; gene therapy; voretigene neparvovec; RPE65; leber congenital amaurosis; early-onset retinal dystrophy; electrophysiology; vision improvement; gene therapy in children |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 26 Mar 2024 10:29 |
| Last Modified: | 26 Mar 2024 10:29 |
| URI: | https://pred.uni-regensburg.de/id/eprint/60573 |
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