ArticleThe Journal of clinical investigation2019
A nonhuman primate model of inherited retinal disease.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 101 citations in OpenAlex.
- Retinal Layer Changes With Aging and Cognitive Decline in Rhesus Macaques.Translational vision science & technology · 2026Article
- Optic Nerve Head Parameters and Their Associations With Axial Length and Refractive Status in Cynomolgus Macaques.Investigative ophthalmology & visual science · 2026Article
- Resting-state electroretinography reveals pathological retinal oscillations in retinitis pigmentosa mice and patients.Nature communications · 2026Article
- Towards clinical translation of nanomedicines: Formulation scale-up and model systems.Advanced drug delivery reviews · 2026Review
- Prime editing in neuropsychiatric disorders: From mutation-specific target selection to clinical translation.Neuroprotection (Chichester, England) · 2026Review
- Generation of a rhesus macaque harboring a multivalent reporter for assessing gene editing outcomes.Scientific reports · 2026Article
- Rhesus macaques with anProceedings of the National Academy of Sciences of the United States of America · 2026Article
- A Comparative Analysis of the Genetic Structures of Rhesus Macaques (Macaca mulatta) Kept in Enclosure-Based Systems and Semi-Natural Settings.Journal of the American Association for Laboratory Animal Science : JAALAS · 2026Article
- Retinal and Choriocapillaris Thickness and Age in Macaques in Development and Aging.Investigative ophthalmology & visual science · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Integrative Landscape of Dry AMD Pathogenesis, Models, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Safety and biocompatibility of a novel biodegradable aflibercept-drug delivery system in rhesus macaques.Drug delivery · 2025Article
- Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques.Genome biology · 2025Article
- A spontaneous nonhuman primate model of inherited retinal degeneration.JCI insight · 2025Article
- Animal models for the evaluation of retinal stem cell therapies.Progress in retinal and eye research · 2025Review
- Non-human primates as preclinical models for optic nerve research: advancing insights into their application and potential.Eye (London, England) · 2025Review
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Contributions and future potential of animal models for geroscience research on sensory systems.GeroScience · 2025Review
- Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder.Investigative ophthalmology & visual science · 2024Article
- Differential gene expression between central and peripheral retinal regions in dogs and comparison with humans.Experimental eye research · 2024Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 5 institutions in 2 countries.
Funding
Abstract
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively. A major limitation to the development of effective therapies is the lack of availability of animal models that fully replicate the human condition. Particularly for cone disorders, rodent, canine, and feline models with no true macula have substantive limitations. By contrast, the cone-rich macula of a nonhuman primate (NHP) closely mirrors that of the human retina. Consequently, well-defined NHP models of heritable retinal diseases, particularly cone disorders that are predictive of human conditions, are necessary to more efficiently advance new therapies for patients. We have identified 4 related NHPs at the California National Primate Research Center with visual impairment and findings from clinical ophthalmic examination, advanced retinal imaging, and electrophysiology consistent with achromatopsia. Genetic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. Biochemical studies demonstrate that the mutant mRNA is translated into a stable protein that displays normal cellular localization but is unable to hydrolyze cyclic GMP (cGMP). This NHP model of a cone disorder will not only serve as a therapeutic testing ground for achromatopsia gene replacement, but also for optimization of gene editing in the macula and of cone cell replacement in general.
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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.