Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.

Autor: Amato A; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA.; IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; IRCCS San Raffaele Scientific Institute, Milan, Italy., Tschetter W; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Everett L; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Bailey ST; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Lauer AK; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97239, USA. pennesi@retinafoundation.org.; Retina Foundation of the Southwest, 9600 N Central Pkwy, Dallas, TX, 75231, USA. pennesi@retinafoundation.org.
Jazyk: angličtina
Zdroj: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Oct; Vol. 149 (2), pp. 63-75. Date of Electronic Publication: 2024 Aug 14.
DOI: 10.1007/s10633-024-09987-6
Abstrakt: Purpose: To present a series of patients with RPE65-related retinal dystrophy showing a partial rescue of the full-field electroretinogram (ERG) following gene replacement therapy with voretigene neparovec-rzyl (Luxturna®).
Methods: This retrospective chart review examined 17 patients treated with voretigene neparovec-rzyl (VN) at the Casey Eye Institute (2018-2022). The last pre-operative ERG and all available post-operative ERGs were analyzed to identify subjects with functional rescue. Measurements of amplitudes and implicit times were compared to data from age-matched controls and the attenuation relative to the lower limit of normal (LLN) was calculated. For comparison with other functional exams, the last pre-operative and all post-treatment best-corrected visual acuity (BCVA) data, visual field (VF) tests and full-field threshold stimulus tests (FST) were also described.
Results: Of patients who underwent ERGs, most had unrecordable ERGs that did not change after treatment. However, we identified three patients, treated bilaterally, who demonstrated partial rescue of the full-field ERG in both eyes which was sustained during the course of the study.
Conclusions: This is the largest series of patients treated with VN showing a partial rescue of the ERG. This is also the first report of bilateral ERG rescue, as well as the first description of ERG recovery occurring in non-pediatric subjects. Full-field ERG could be used in combination with other psychophysical tests and imaging modalities to detect and deepen our understanding of the response to this gene therapy approach.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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