Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec Article Swipe
Krunoslav Stingl
,
Melanie Kempf
,
Karl Ulrich Bartz‐Schmidt
,
Spyridon Dimopoulos
,
Felix F. Reichel
,
Ronja Jung
,
Carina Kelbsch
,
Susanne Kohl
,
Friederike Kortüm
,
Fadi Nasser
,
Tobias Peters
,
Barbara Wilhelm
,
Bernd Wissinger
,
Fabian Wozar
,
Eberhart Zrenner
,
M. Dominik Fischer
,
Katarína Štingl
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1136/bjophthalmol-2020-318286
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1136/bjophthalmol-2020-318286
Background Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. In this study, we report on a novel and objective evaluation of a retinotopic photoreceptor rescue. Methods Seven eyes of five patients (14, 21, 23, 24, 36 years, 1 male, 4 females) with bi-allelic RPE65 mutations have been treated with voretigene neparvovec. The clinical examinations included visual acuity testing, dark-adapted full-field stimulus threshold (FST), dark-adapted chromatic perimeter (DAC) with a 30-degree grid, and a 30 degrees grid scotopic and photopic chromatic pupil campimetry (CPC). All evaluations and spectral domain optical coherence tomography were performed at baseline, 1 month and 3 months. Results All except the oldest patient had a measurable improvement of the rod function assessed via FST, DAC or scotopic CPC at 1 month. The visual acuity improved slightly or remained stable in all eyes. A cone function improvement as measured by photopic CPC was observed in three eyes. The gain of the dark-adapted threshold with blue FST and the DAC stimuli (cyan) average correlated strongly with age (R 2 >0.7). The pupil response improvement in the scotopic CPC correlated with the baseline local retinal volume (R 2 =0.5). Conclusions The presented protocols allow evaluating the individual spatial and temporal effects of gene therapy effects. Additionally, we explored parameters that correlated with the success of the therapy. CPC and DAC present new and fast ways to assess functional changes in retinotopic maps of rod and cone function, measuring complementary aspects of retinal function.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1136/bjophthalmol-2020-318286
- https://bjo.bmj.com/content/bjophthalmol/early/2021/01/20/bjophthalmol-2020-318286.full.pdf
- OA Status
- hybrid
- Cited By
- 41
- References
- 34
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3123896791
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3123896791Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1136/bjophthalmol-2020-318286Digital Object Identifier
- Title
-
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovecWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-01-20Full publication date if available
- Authors
-
Krunoslav Stingl, Melanie Kempf, Karl Ulrich Bartz‐Schmidt, Spyridon Dimopoulos, Felix F. Reichel, Ronja Jung, Carina Kelbsch, Susanne Kohl, Friederike Kortüm, Fadi Nasser, Tobias Peters, Barbara Wilhelm, Bernd Wissinger, Fabian Wozar, Eberhart Zrenner, M. Dominik Fischer, Katarína ŠtinglList of authors in order
- Landing page
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https://doi.org/10.1136/bjophthalmol-2020-318286Publisher landing page
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https://bjo.bmj.com/content/bjophthalmol/early/2021/01/20/bjophthalmol-2020-318286.full.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
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https://bjo.bmj.com/content/bjophthalmol/early/2021/01/20/bjophthalmol-2020-318286.full.pdfDirect OA link when available
- Concepts
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Scotopic vision, Photopic vision, Ophthalmology, Visual acuity, Medicine, Retinal, Pupil, Electroretinography, Visual field, Optics, PhysicsTop concepts (fields/topics) attached by OpenAlex
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41Total citation count in OpenAlex
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2025: 8, 2024: 10, 2023: 13, 2022: 7, 2021: 3Per-year citation counts (last 5 years)
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34Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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