ArticleThe Journal of clinical investigation2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Article in The Journal of clinical investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 56 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
- De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Nature genetics · 2026Article
- Gene augmentation therapy restores vision and preserves photoreceptors in a mouse model of CNGA1-retinitis pigmentosa.Communications medicine · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.International journal of molecular sciences · 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
- Single-cell sequencing analysis reveals the essential role of the mZoological research · 2025Article
- De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.medRxiv : the preprint server for health sciences · 2025Article
- Ocular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates.Translational vision science & technology · 2025Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Late gene therapy limits the restoration of retinal function in a mouse model of retinitis pigmentosa.Nature communications · 2023Article
- Genome-wide methylation patterns from canine nanopore assemblies.G3 (Bethesda, Md.) · 2023Article
- Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- CNG channel-related retinitis pigmentosa.Vision research · 2023Article
- Late gene therapy limits the restoration of retinal function in a mouse model of retinitis pigmentosa.bioRxiv : the preprint server for biology · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Characterization of scotopic and mesopic rod signaling pathways in dogs using the On-Off electroretinogram.BMC veterinary research · 2022Article
- Residual rod function in CNGB1 mutant dogs.Documenta ophthalmologica. Advances in ophthalmology · 2022Article
- Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.Cell death discovery · 2022Article
- The Natural History ofInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
Abstract
Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease. Additionally, we used gene augmentation therapy in a CNGβ1-deficient dog model to evaluate potential translation to patients. CNGB1-deficient RP patients and mouse and dog models had a similar phenotype characterized by early loss of rod function and slow rod photoreceptor loss with a secondary decline in cone function. Advanced imaging showed promise for evaluating RP progression in human patients, and gene augmentation using adeno-associated virus vectors robustly sustained the rescue of rod function and preserved retinal structure in the dog model. Together, our results reveal an early loss of rod function in CNGB1-deficient patients and a wide window for therapeutic intervention. Moreover, the identification of potential biomarkers of outcome measures, availability of relevant animal models, and robust functional rescue from gene augmentation therapy support future work to move CNGB1-RP therapies toward clinical trials.
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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.