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Current animal models (such as Rdh5\u2212\/\u2212 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\u2009&amp;gt;\u2009T; 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.<\/jats:p>","DOI":"10.1093\/hmg\/ddab316","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T07:08:16Z","timestamp":1635491296000},"page":"1263-1277","source":"Crossref","is-referenced-by-count":21,"title":["A large animal model of\n                    <i>RDH5<\/i>\n                    -associated retinopathy recapitulates important features of the human phenotype"],"prefix":"10.1093","volume":"31","author":[{"given":"Laurence M","family":"Occelli","sequence":"first","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4947-9759","authenticated-orcid":false,"given":"Anahita","family":"Daruwalla","sequence":"additional","affiliation":[{"name":"Department of Physiology & Biophysics , University of California, Irvine School of Medicine, Irvine, CA 92697, USA"},{"name":"Department of Pharmacology , Case Western Reserve University, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha R","family":"De Silva","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust , London, UK"},{"name":"UCL Institute of Ophthalmology , University College, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige A","family":"Winkler","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelian","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel","family":"Pasmanter","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Minella","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Querubin","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. MI 48824, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie A","family":"Lyons","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery , College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"99 Lives Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony G","family":"Robson","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust , London, UK"},{"name":"UCL Institute of Ophthalmology , University College, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Heon","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology , The Hospital for Sick Children, Toronto, Canada"},{"name":"Institute of Medical Science , The University of Toronto, Toronto, Canada"},{"name":"Department of Ophthalmology and Vision Sciences , The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust , London, UK"},{"name":"UCL Institute of Ophthalmology , University College, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R","family":"Webster","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust , London, UK"},{"name":"UCL Institute of Ophthalmology , University College, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0788-545X","authenticated-orcid":false,"given":"Krzysztof","family":"Palczewski","sequence":"additional","affiliation":[{"name":"Department of Physiology & Biophysics , University of California, Irvine School of Medicine, Irvine, CA 92697, USA"},{"name":"Department of Ophthalmology , Gavin Herbert Eye Institute, Center for Translational Vision Research, University of California, Irvine, CA 92617, USA"},{"name":"The Department of Chemistry , Department of Molecular Biology and Biochemistry, University of California, Irvine, CA 92697, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajoy","family":"Vincent","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology , The Hospital for Sick Children, Toronto, Canada"},{"name":"Institute of Medical Science , The University of Toronto, Toronto, Canada"},{"name":"Department of Ophthalmology and Vision Sciences , The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A","family":"Mahroo","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust , London, UK"},{"name":"UCL Institute of Ophthalmology , University College, London, UK"},{"name":"Section of Ophthalmology , King\u2019s College London, St Thomas\u2019 Hospital Campus, London, UK"},{"name":"Physiology , Development and Neuroscience, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip D","family":"Kiser","sequence":"additional","affiliation":[{"name":"Department of Physiology & Biophysics , University of California, Irvine School of Medicine, Irvine, CA 92697, USA"},{"name":"Department of Ophthalmology , Gavin Herbert Eye Institute, Center for Translational Vision Research, University of California, Irvine, CA 92617, USA"},{"name":"Research Service , The Veterans Affairs Long Beach Health Care System, Long Beach, CA 90822, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7410-2304","authenticated-orcid":false,"given":"Simon M","family":"Petersen-Jones","sequence":"additional","affiliation":[{"name":"Department of Small Animal Clinical Sciences , Michigan State University, East Lansing. 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