ArticleHuman molecular genetics2022
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Large animal model species in pluripotent stem cell therapy research and development for retinal diseases: a systematic review.Frontiers in ophthalmology · 2024Pooled it
- New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Functional and Structural Characterization of a Large Animal Model of RDH5-Associated Retinopathy.Translational vision science & technology · 2026Article
- Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.Clinical genetics · 2026Article
- Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation.Translational vision science & technology · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Animal models for the evaluation of retinal stem cell therapies.Progress in retinal and eye research · 2025Review
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- Article
- Toward telomere-to-telomere cat genomes for precision medicine and conservation biology.Genome research · 2024Review
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Manifestations of systemic disease in the retina and fundus of cats and dogs.Frontiers in veterinary science · 2024Review
- Transcriptomic Changes Predict Metabolic Alterations in LC3 Associated Phagocytosis in Aged Mice.International journal of molecular sciences · 2023Article
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Authors and funding
19 authors at 6 institutions in 3 countries.
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Abstract
Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leading to a range of clinical phenotypes including night blindness because of markedly slowed rod dark adaptation and in some patients, macular atrophy. Current animal models (such as Rdh5-/- mice) fail to recapitulate the functional or degenerative phenotype. Addressing this need for a relevant animal model we present a new domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val). As with patients, affected cats have a marked delay in recovery of dark adaptation. In addition, the cats develop a degeneration of the area centralis (equivalent to the human macula). This recapitulates the development of macular atrophy that is reported in a subset of patients with RDH5 mutations and is shown in this paper in seven patients with biallelic RDH5 mutations. There is notable variability in the age at onset of the area centralis changes in the cat, with most developing changes as juveniles but some not showing changes over the first few years of age. There is similar variability in development of macular atrophy in patients and while age is a risk factor, it is hypothesized that genetic modifying loci influence disease severity, and we suspect the same is true in the cat model. This novel cat model provides opportunities to improve molecular understanding of macular atrophy and test therapeutic interventions for RDH5-associated retinopathies.
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