Emerging therapies for inherited retinal degeneration
Abstract
Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these disorders and are helping to identify new therapeutic approaches, such as gene therapy, stem cell therapy, and optogenetics. Several of these approaches have entered the clinical phase of development. Artificial replacement of dying photoreceptor cells using retinal prostheses has received regulatory approval. Precise retinal imaging and testing of visual function are facilitating more efficient clinical trial design. In individual patients, disease stage will determine whether the therapeutic strategy should comprise photoreceptor cell rescue to delay or arrest vision loss or retinal replacement for vision restoration.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
RP is a set of rare inherited retinal rod-cone dystrophies causing loss of night vision and constriction of the visual field, later followed by cone dysfunction and eventually total blindness.
“Unlike AMD, RP is a set of rare inherited retinal rod-cone dystrophies, causing loss of night vision and the constriction of the visual field (tunnel vision), later followed by cone dysfunction and eventually total blindness (figure 4(c)) [5,22].”
From Advances in visual prostheses: engineering and biological challenges (2022) · cites this paper as [5]
Prospective approaches such as gene and cell therapies or optogenetics only focus on the retina and are ineffective when pathologies irremediably damage the retina or the optic nerve.
“Prospective approaches, like gene and cell therapies or optogenetics, only focus on the retina [5,6], and they are ineffective when pathologies irremediably damage the retina or the optic nerve [7,8].”
From Advances in visual prostheses: engineering and biological challenges (2022) · cites this paper as [5]
The citation lists haven’t been fetched yet
References 114 · Cited by 219
- Authors
- Scholl, H. P. N., Strauss, R. W., Singh, M. S., Dalkara, D., Roska, B., Picaud, S., & Sahel, J.-A.
- Affiliations
- Johns Hopkins University (US)
- Johannes Kepler University of Linz (AT)
- Centre National de la Recherche Scientifique (FR)
- University of Basel (CH)
- Corresponding author
- Scholl, Hendrik P. N.
- Strauss, Rupert W.
- Singh, Mandeep S.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2016-12-07
- Volume
- 8
- Issue
- 368
- Pages
- 368rv6-368rv6
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2559989482
- Cited by
- 219
- References
- 114
- Citations by year
- 2026: 13 · 2025: 10 · 2024: 16 · 2023: 23 · 2022: 20 · 2021: 36 · 2020: 24 · 2019: 26 · 2018: 24 · 2017: 26 · 2016: 1
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Labex LifeSenses (ANR-10-LABX-65)
- Foundation Fighting Blindness
- Austrian Science Fund (FWF #J3383-B23)
- Foundation Fighting Blindness Clinical Research Institute
- Shulsky Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Photoreceptor and optogenetics research
- Keywords
- inherited retinal degeneration, photoreceptors, gene therapy, stem cell therapy, optogenetics, retinal prosthesis, vision loss, retinal imaging, visual function assessment, clinical trial design, disease stage, blindness
- MeSH terms
- Animals, Clinical Trials as Topic, Humans, Molecular Biology, Photoreceptor Cells, Retina, Retinal Degeneration, Stem Cells, Vision, Ocular, Genetic Therapy, Genetic Predisposition to Disease, Stem Cell Transplantation, Visual Prosthesis, Optogenetics
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
