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Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Open accessAbstract
Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromophore which forms the visual pigment in rod and cone photoreceptors of the retina. Congenital loss of chromophore production due to RPE65-deficiency together with progressive photoreceptor degeneration cause severe and progressive loss of vision. RPE65-associated LCA recently gained recognition outside of specialty ophthalmic circles due to early success achieved by three clinical trials of gene therapy using recombinant adeno-associated virus (AAV) vectors. The trials were built on multitude of basic, pre-clinical and clinical research defining the pathophysiology of the disease in human subjects and animal models, and demonstrating the proof-of-concept of gene (augmentation) therapy. Substantial gains in visual function of clinical trial participants provided evidence for physiologically relevant biological activity resulting from a newly introduced gene. This article reviews the current knowledge on retinal degeneration and visual dysfunction in animal models and human patients with RPE65 disease, and examines the consequences of gene therapy in terms of improvement of vision reported.
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“For RPE65 the severity of disease has been associated with the degree of residual enzymatic activity.274,281,557”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [274]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“RPE65 catalyses the conversion of all-trans-retinyl ester to 11-cis-retinol, allowing it to be reused in phototransduction and preventing its conversion to potentially toxic molecules.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [109]
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“In addition, retinyl esters accumulate in the RPE, leading to its damage [7,108,109,110].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [109]
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“The pathogenesis, therefore, combines local vitamin A deficiency and its impaired metabolism, which leads to the formation of toxic byproducts.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [109]
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“Pathogenic variants in RPE65 result in 11-cis-retinol and subsequently 11-cis-retinal deficiency, which essentially stops the visual cycle.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [109]
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“Dysfunction of such processes as phagocytosis, lysosomal degradation, and removal of waste products by the RPE can lead to severe retinopathies, including age-related macular degeneration (AMD).”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [274]
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Metadata
- Authors
- Cideciyan, A. V.
- Affiliations
- University of Pennsylvania (US)
- Corresponding author
- Cideciyan, Artur V.
- ORCID
- Cideciyan, Artur V.
- Venue
- Progress in Retinal and Eye Research
- Publisher
- Elsevier BV
- Published
- 2010-09
- Volume
- 29
- Issue
- 5
- Pages
- 398-427
- ISSN
- 1350-9462 (ISSN-L)
- PMC
- PMC2903652
- OpenAlex
- W1970654757
- Cited by
- 256
- References
- 243
- Citations by year
- 2026: 10 · 2025: 15 · 2024: 13 · 2023: 11 · 2022: 13 · 2021: 18 · 2020: 14 · 2019: 19 · 2018: 10 · 2017: 12 · 2016: 11 · 2015: 21 · 2014: 18 · 2013: 22 · 2012: 23
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Progress in Retinal and Eye Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Eye Institute (U10EY017280, R01EY013203)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- Leber congenital amaurosis, RPE65 mutations, gene therapy, recombinant adeno-associated virus vectors, retinal pigment epithelium, photoreceptor degeneration, inherited retinal degeneration, animal models, visual function outcomes
- MeSH terms
- Retinoid Isomerohydrolase, Animals, Carrier Proteins, DNA, Eye Proteins, Humans, Mutation, Genetic Therapy, cis-trans-Isomerases, Leber Congenital Amaurosis
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