{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:32:00Z","timestamp":1790947920445,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T00:00:00Z","timestamp":1729382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T00:00:00Z","timestamp":1729382400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100001458","name":"American Kennel Club Canine Health Foundation","doi-asserted-by":"publisher","award":["02572\u2010MOU"],"award-info":[{"award-number":["02572\u2010MOU"]}],"id":[{"id":"10.13039\/100001458","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Ophthalmology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Cone\u2010rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an\n                      <jats:italic>RPGRIP1<\/jats:italic>\n                      genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs). Yet its clinical and pathological implications remain equivocal. Herein, we study the retinal phenotype in ESSs genetically affected with the\n                      <jats:italic>RPGRIP1<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animal Studied<\/jats:title>\n                    <jats:p>Over 4\u2009years, 494 ESSs (123 affected) were enrolled.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Procedure(s)<\/jats:title>\n                    <jats:p>Owner\u2010perceived vision was collected via a questionnaire. Ophthalmic examination included fundus photography. In selected ESSs, retinal function and structure were assessed using electroretinography (ERG, 148 dogs) and optical coherence tomography (OCT, 4 dogs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Ophthalmoscopic changes included peripheral hypo\u2010reflective lesions often with distinct borders progressing centripetally culminating in generalized retinal atrophy. Cross\u2010sectional study revealed declining photopic ERG amplitudes with age in the affected group but not in controls. OCT indicated progressive photoreceptor loss. Despite ophthalmoscopic, ERG, or OCT abnormalities, most affected dogs were not visually impaired per their owners. In a fraction of afflicted ESSs, vision\/globe\u2010threatening complications were documented including cataracts, lens luxation, and glaucoma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In ESSs, the\n                      <jats:italic>RPGRIP1<\/jats:italic>\n                      variant is associated with insidious pathology with delayed\u2010onset visual defects. The subtle phenotype without apparent visual deficit until the final years of life, if at all, may have caused underdiagnosis of cord1. Still, DNA testing remains informative, and ERG and OCT indicate progressive pathology. Peripheral fundus examination and photopic ERG are particularly useful for early detection and monitoring of cord1.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/vop.13290","type":"journal-article","created":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T23:09:08Z","timestamp":1729465748000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Delayed\u2010onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the\n                    <i>RPGRIP1<\/i>\n                    variant"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1995-0095","authenticated-orcid":false,"given":"Jennifer C.","family":"Kwok","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2637-3507","authenticated-orcid":false,"given":"Jessica K.","family":"Niggel","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ozdogan","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Murgiano","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9324-0155","authenticated-orcid":false,"given":"Keiko","family":"Miyadera","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01999-6"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-011-9361-3"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells9040882"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.746781"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.035121"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/320113"},{"key":"e_1_2_12_8_1","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a017384","article-title":"Leber congenital amaurosis caused by mutations in RPGRIP1","volume":"5","author":"Li T","year":"2014","journal-title":"Cold Spring Harb Perspect 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