| Autor: |
Gerhardt MJ; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany., Priglinger CS; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany., Rudolph G; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany., Hufendiek K; University Eye Hospital Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany., Framme C; University Eye Hospital Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany., Jägle H; Department of Ophthalmology, University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany., Salchow DJ; Department of Ophthalmology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute for Health, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany., Anschütz A; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany., Michalakis S; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany., Priglinger SG; Department of Ophthalmology, Ludwig-Maximilians-University Munich, Mathildenstraße 8, 80336 München, Germany. |
| Abstrakt: |
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. |
