Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

Cideciyan, Artur V.

doi:10.1016/j.preteyeres.2010.04.002

Cited by 256Retinal Development and DisordersVirus-based gene therapy researchRetinal Diseases and Treatments

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

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Cideciyan, Artur V.·2010·Progress in Retinal and Eye Research

DOI 10.1016/j.preteyeres.2010.04.002PMC PMC2903652

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Abstract

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, disease severity is associated with the degree of residual enzymatic activity.
“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]
Section 5.1 (page unavailable) reports that mice producing detectable 11-cis-retinal were thought to be more light-sensitive than RPE65 knockout mice, supporting an association in that model. But Section 3 says a quantitative relationship between human disease severity and genotype has not been definitively established, and notes that in vivo results appear to contradict in vitro predictions. The claim is therefore broader than the evidence in this review supports. (LLM, conf=0.86)
Experimental — accuracy not yet measured
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.
“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]
Section 4.1 describes RPE65 deficiency as blocking the conversion of all-trans-retinyl esters to 11-cis-retinol, and Section 2 explains that the visual cycle resupplies chromophore for phototransduction. The paper does not establish that this conversion prevents formation of potentially toxic molecules; Sections 4.1 and 4.3 instead report reduced lipofuscin when RPE65 is deficient. Page numbers were not provided in our copy. (LLM, conf=0.86)
Experimental — accuracy not yet measured
In RPE65 retinopathy, retinyl esters accumulate in the RPE, leading to its damage.
“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]
Section 4.1 (Murine models; page unavailable) reports massive retinyl-ester accumulation in RPE65-deficient mouse RPE and later RPE atrophy. It explicitly says the contribution of the accumulated structures to RPE degeneration remains unexplored, so it does not establish that the accumulation causes RPE damage. (LLM, conf=0.90)
Experimental — accuracy not yet measured
The pathogenesis of RPE65 retinopathy combines local vitamin A deficiency and impaired metabolism, leading to formation of toxic byproducts.
“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]
Section 4.1 (Murine models; page unavailable) describes a block in retinoid metabolism and accumulation of all-trans-retinyl esters. It does not establish that this produces toxic byproducts that drive the disease; it says the contribution of the accumulated structures to degeneration remains unexplored and reports a dramatic absence of lipofuscin granules. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Pathogenic variants in RPE65 result in 11-cis-retinol and subsequently 11-cis-retinal deficiency, which essentially stops the visual cycle.
“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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RPE65, Visual Cycle Retinol Isomerase, Is Not Inherently 11-cis-specific
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Mole Quantity of RPE65 and Its Productivity in the Generation of 11-cis-Retinal from Retinyl Esters in the Living Mouse Eye
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Assessment of Structure and Function Over a 3-year Period after Gene Transfer in RPE65−/− dogs
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Predicting the pathogenicity ofRPE65mutations
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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
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Retinal degeneration and RPE transplantation in Rpe65(-/-) mice.
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Palmitoylation stabilizes unliganded rod opsin
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Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene
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Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
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Ultrastructural changes of the retina and the retinal pigment epithelium in briard dogs with hereditary congenital night blindness and partial day blindness
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In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death
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Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eye.
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Nrl -Knockout Mice Deficient in Rpe65 Fail to Synthesize 11- cis Retinal and Cone Outer Segments
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Optical Coherence Tomography (OCT) Abnormalities in Mutant Transgenic Swine with Retinal Degeneration
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Two Point Mutations of RPE65 from Patients with Retinal Dystrophies Decrease the Stability of RPE65 Protein and Abolish Its Isomerohydrolase Activity
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Changes in the DC electroretinogram in briard dogs with hereditary congenital night blindness and partial day blindness
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Electron Microscopy of a Retinal Abiotrophy
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OUTCOME MEASURES AND THEIR APPLICATION IN CLINICAL TRIALS FOR RETINAL DEGENERATIVE DISEASES
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Adeno-Associated Viral Vectors and the Retina
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Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization
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Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
Matri, L. E., Ambresin, A., Schorderet, D. F., Kawasaki, A., Seeliger, M. W., Wenzel, A., Arsenijévic, Y., Borruat, F., & Munier, F. L. (2006) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-005-0096-2 · Cited by 36 · see citing works
A Novel Method for Objective Vision Testing in Canine Models of Inherited Retinal Disease
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Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
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The pupil
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Developmental delay and magnocellular visual pathway function in very‐low‐birthweight preterm infants
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Identification of PSF, the polypyrimidine tract-binding protein-associated splicing factor, as a developmentally regulated neuronal protein
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Preliminary Results of Gene Therapy for Retinal Degeneration
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RPE65 surface epitopes, protein interactions, and expression in rod- and cone-dominant species.
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Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results
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Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration
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Cone Outer Segment Morphology and Cone Function in the Rpe65 −/− Nrl −/− Mouse Retina Are Amenable to Retinoid Replacement
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A technique to train new oculomotor behavior in patients with central macular scotomas during reading related tasks using scanning laser ophthalmoscopy: immediate functional benefits and gains retention
Déruaz, A., Goldschmidt, M., Whatham, A. R., Mermoud, C., Lorincz, E. N., Schnider, A., & Safran, A. B. (2006) · BMC Ophthalmology · doi:10.1186/1471-2415-6-35 · Cited by 28 · see citing works
Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function
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An fMRI Study of Saccadic and Smooth-Pursuit Eye Movement Control in Patients with Age-Related Macular Degeneration
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Focus on Molecules: RPE65, the visual cycle retinol isomerase
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Recent advances in ocular gene therapy
Chung, D. C., Lee, V., & Maguire, A. M. (2009) · Current Opinion in Ophthalmology · doi:10.1097/icu.0b013e32832f802a · Cited by 26 · see citing works
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Poehner, W., Fossarello, M., Rapoport, A., Alemán, T. S., Cideciyan, A. V., Jacobson, S. G., Wright, A. F., Danciger, M., & Farber, D. B. (2000) · PubMed · Cited by 26 · see citing works
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Current clinical applications of in vivo gene therapy with AAVs
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Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
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Gene Therapy
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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
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Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
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Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation–Associated Inherited Retinal Dystrophy
Maguire, A. M., Russell, S., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., Marshall, K. A., et al. (2019) · Ophthalmology · doi:10.1016/j.ophtha.2019.06.017 · Cited by 409 · see citing works
Chemistry of the Retinoid (Visual) Cycle
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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2
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Polymer- and lipid-based nanocarriers for ocular drug delivery: Current status and future perspectives
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A comprehensive review of retinal gene therapy
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Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
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Neuroprotective strategies for retinal disease
Pardue, M. T., & Allen, R. S. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.02.002 · Cited by 237 · see citing works
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
Yu-Wai-Man, P., Newman, N. J., Carelli, V., Moster, M. L., Biousse, V., Sadun, A. A., Klopstock, T., Vignal-Clermont, C., Sergott, R. C., Rudolph, G., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz7423 · Cited by 232 · see citing works
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
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Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy
Maguire, A. M., Bennett, J., Aleman, E. M., Leroy, B. P., & Alemán, T. S. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.11.029 · Cited by 183 · see citing works
Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases
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Key enzymes of the retinoid (visual) cycle in vertebrate retina
Kiser, P. D., Golczak, M., Maeda, A., & Palczewski, K. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.03.005 · Cited by 177 · see citing works
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
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Endoplasmic Reticulum Stress and the Unfolded Protein Responses in Retinal Degeneration
Zhang, S. X., Sanders, E., Fliesler, S., & Wang, J. (2014) · Experimental Eye Research · doi:10.1016/j.exer.2014.04.015 · Cited by 151 · see citing works
Structural Characterization of the Dual Glycan Binding Adeno-Associated Virus Serotype 6
Ng, R., Lakshmanan Govindasamy, A., Gurda, B. L., McKENNA, R. V., Kozyreva, O. G., Samulski, R. J., Parent, K. N., Baker, T. S., & Agbandje‐McKenna, M. (2010) · Journal of Virology · doi:10.1128/jvi.01235-10 · Cited by 143 · see citing works
RPGR: Its role in photoreceptor physiology, human disease, and future therapies
Megaw, R. D., Soares, D. C., & Wright, A. F. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.06.007 · Cited by 141 · see citing works
Restoration of visual function by transplantation of optogenetically engineered photoreceptors
Garita‐Hernandez, M., Lampič, M., Chaffiol, A., Guibbal, L., Routet, F., Santos‐Ferreira, T., Gasparini, S. J., Borsch, O., Gagliardi, G., Reichman, S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12330-2 · Cited by 121 · see citing works
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
Cideciyan, A. V., Rachel, R. A., Alemán, T. S., Świder, M., Schwartz, S., Sumaroka, A., Román, A. J., Stone, E. M., Jacobson, S. G., & Swaroop, A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr022 · Cited by 117 · see citing works
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Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia
Banin, E., Gootwine, E., Obolensky, A., Ezra-Elia, R., Ejzenberg, A., Zelinger, L., Honig, H., Rosov, A., Yamin, E., Sharon, D., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.114 · Cited by 113 · see citing works
Human CRB1 -Associated Retinal Degeneration: Comparison with the rd8 Crb1 -Mutant Mouse Model
Alemán, T. S., Cideciyan, A. V., Aguirre, G. K., Huang, W., Mullins, C. L., Román, A. J., Sumaroka, A., Olivares, M. B., Tsai, F. F., Schwartz, S., et al. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-7701 · Cited by 116 · see citing works
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Animal Models of Retinal Disease
Fletcher, E. L., Jobling, A. I., Vessey, K. A., Luu, C. D., Guymer, R. H., & Baird, P. N. (2011) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-384878-9.00006-6 · Cited by 109 · see citing works
The Role of Vitamin A in Retinal Diseases
Sajovic, J., Meglič, A., Glavač, D., Markelj, Š., Hawlina, M., & Fakin, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031014 · Cited by 109 · see citing works
Retinoids and Retinal Diseases
Kiser, P. D., & Palczewski, K. (2016) · Annual Review of Vision Science · doi:10.1146/annurev-vision-111815-114407 · Cited by 108 · see citing works
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
Gérard, X., Perrault, I., Hanein, S., Silva, E. D., Bigot, K., Defoort‐Dhellemmes, S., Rio, M., Münnich, A., Scherman, D., Kaplan, J., et al. (2012) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2012.21 · Cited by 106 · see citing works
Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs)
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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)
DOI: 10.1016/j.preteyeres.2010.04.002
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

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