ArticleMolecular therapy : the journal of the American Society of Gene Therapy2021
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 34 citations in OpenAlex.
- Gene therapy induces synaptic ribbon maturation, synaptogenesis and vision recovery in an adult dog model of retinal degeneration.Molecular therapy. Advances · 2026Article
- Impact of PEGylation and hyaluronan functionalization on lipoplex-mediated mRNA delivery to the canine retina.Drug delivery · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Device-free isolation of photoreceptor cells from patient iPSC-derived retinal organoids.JCI insight · 2025Article
- Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Mapping Protein Distribution in the Canine Photoreceptor Sensory Cilium and Calyceal Processes by Ultrastructure Expansion Microscopy.Investigative ophthalmology & visual science · 2025Article
- Mapping protein distribution in the canine photoreceptor sensory cilium and calyceal processes by ultrastructure expansion microscopy.bioRxiv : the preprint server for biology · 2024Article
- Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations.Cell death & disease · 2024Article
- IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.American journal of ophthalmology · 2024Article
- Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.Vision research · 2024Article
- Fine-tuning FAM161A gene augmentation therapy to restore retinal function.EMBO molecular medicine · 2024Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Cone-Driven, Geniculocortical Responses in Canine Models of Outer Retinal Disease.Translational vision science & technology · 2024Article
- Automated quantification of photoreceptor outer segments in developing and degenerating retinas on microscopy images across scales.Frontiers in molecular neuroscience · 2024Article
- Cone-driven, geniculo-cortical responses in canine models of outer retinal disease.bioRxiv : the preprint server for biology · 2023Article
- Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness.Vision research · 2023Article
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.Human molecular genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
The inherited childhood blindness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction, and degeneration of photoreceptors. A naturally occurring NPHP5 mutation in dogs leads to a phenotype that very nearly duplicates the human retinopathy in terms of the photoreceptors involved, spatial distribution of degeneration, and the natural history of vision loss. We show that adeno-associated virus (AAV)-mediated NPHP5 gene augmentation of mutant canine retinas at the time of active degeneration and peak cell death stably restores photoreceptor structure, function, and vision with either the canine or human NPHP5 transgenes. Mutant cone photoreceptors, which failed to form outer segments during development, reform this structure after treatment. Degenerating rod photoreceptor outer segments are stabilized and develop normal structure. This process begins within 8 weeks after treatment and remains stable throughout the 6-month posttreatment period. In both photoreceptor cell classes mislocalization of rod and cone opsins is minimized or reversed. Retinal function and functional vision are restored. Efficacy of gene therapy in this large animal ciliopathy model of Leber congenital amaurosis provides a path for translation to human treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.