{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T02:35:02Z","timestamp":1770086102403,"version":"3.49.0"},"reference-count":22,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"2","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2026,2,2]]},"DOI":"10.1167\/tvst.15.2.1","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T13:30:36Z","timestamp":1770039036000},"page":"1","source":"Crossref","is-referenced-by-count":0,"title":["Pathogenicity and Functional Analysis of Multi-Variant Allele of\n                    <i>RPE<\/i>\n                    65 Causing Retinitis Pigmentosa"],"prefix":"10.1167","volume":"15","author":[{"given":"Guiyue","family":"Wu","sequence":"first","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Eye Institute, Henan Academy of Innovations in Medical Science, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingge","family":"Guo","sequence":"additional","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Li","sequence":"additional","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun","family":"Yao","sequence":"additional","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Eye Institute, Henan Academy of Innovations in Medical Science, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"You","sequence":"additional","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leilei","family":"Hao","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Lei","sequence":"additional","affiliation":[{"name":"Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China"},{"name":"Eye Institute, Henan Academy of Innovations in Medical Science, Zhengzhou, China"},{"name":"Henan Clinical Research Center for Ocular Diseases, People's Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog Retin Eye Res"},{"issue":"9","key":"bib2","doi-asserted-by":"publisher","first-page":"4883","DOI":"10.3390\/ijms23094883","article-title":"Retinitis pigmentosa: progress in molecular pathology and biotherapeutical strategies","volume":"23","author":"Liu","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"13","key":"bib3","doi-asserted-by":"publisher","first-page":"2504","DOI":"10.1038\/s41433-024-03065-6","article-title":"Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice","volume":"38","author":"Testa","year":"2024","journal-title":"Eye (Lond)"},{"issue":"1","key":"bib4","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1186\/s13023-021-01807-3","article-title":"Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population","volume":"16","author":"Gao","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"101013","DOI":"10.1016\/j.preteyeres.2021.101013","article-title":"Retinal pigment epithelium 65 kDa protein (RPE65): an update","volume":"88","author":"Kiser","year":"2022","journal-title":"Prog Retin Eye Res"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.preteyeres.2017.10.004","article-title":"Molecular genetics and emerging therapies for retinitis pigmentosa: basic research and clinical perspectives","volume":"63","author":"Dias","year":"2018","journal-title":"Prog Retin Eye Res"},{"issue":"3","key":"bib7","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/0039-6257(88)90085-9","article-title":"Retinitis pigmentosa","volume":"33","author":"Pagon","year":"1988","journal-title":"Surv Ophthalmol"},{"issue":"35","key":"bib8","doi-asserted-by":"publisher","first-page":"12413","DOI":"10.1073\/pnas.0503460102","article-title":"RPE65 is the isomerohydrolase in the retinoid visual cycle","volume":"102","author":"Moiseyev","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"bib9","doi-asserted-by":"publisher","first-page":"166","DOI":"10.3341\/kjo.2023.0008","article-title":"Voretigene neparvovec for the treatment of RPE65-associated retinal dystrophy: consensus and recommendations from the Korea RPE65-IRD Consensus Paper Committee","volume":"37","author":"Han","year":"2023","journal-title":"Korean J Ophthalmol"},{"issue":"4","key":"bib10","doi-asserted-by":"publisher","first-page":"537","DOI":"10.3390\/genes12040537","article-title":"Autosomal recessive retinitis pigmentosa associated with three novel REEP6 variants in Chinese population","volume":"12","author":"Zhang","year":"2021","journal-title":"Genes (Basel)"},{"issue":"D1","key":"bib11","doi-asserted-by":"publisher","first-page":"D1039","DOI":"10.1093\/nar\/gkx1039","article-title":"VarCards: an integrated genetic and clinical database for coding variants in the human genome","volume":"46","author":"Li","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"10","key":"bib12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1167\/tvst.12.10.1","article-title":"Pathogenicity and function analysis of two novel SLC4A11 variants in patients with congenital hereditary endothelial dystrophy","volume":"12","author":"Zhen","year":"2023","journal-title":"Transl Vis Sci Technol"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"1216427","DOI":"10.3389\/fmed.2023.1216427","article-title":"Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma","volume":"10","author":"Yang","year":"2023","journal-title":"Front Med (Lausanne)"},{"issue":"1","key":"bib14","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/s41420-022-01160-9","article-title":"A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein","volume":"8","author":"Yang","year":"2022","journal-title":"Cell Death Discov"},{"issue":"41","key":"bib15","doi-asserted-by":"publisher","first-page":"E2747","DOI":"10.1073\/pnas.1212025109","article-title":"Structure of RPE65 isomerase in a lipidic matrix reveals roles for phospholipids and iron in catalysis","volume":"109","author":"Kiser","year":"2012","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"bib16","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1080\/13816810802626399","article-title":"RPE65: role in the visual cycle, human retinal disease, and gene therapy","volume":"30","author":"Cai","year":"2009","journal-title":"Ophthalmic Genet"},{"issue":"4","key":"bib17","doi-asserted-by":"publisher","first-page":"2500","DOI":"10.1167\/iovs.13-13574","article-title":"The Rpe65rd12 allele exerts a semidominant negative effect on vision in mice","volume":"55","author":"Wright","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"bib18","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1002\/humu.22944","article-title":"Multiallelic positions in the human genome: challenges for genetic analyses","volume":"37","author":"Campbell","year":"2016","journal-title":"Hum Mutat"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"e15702","DOI":"10.7717\/peerj.15702","article-title":"Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants","volume":"11","author":"Wu","year":"2023","journal-title":"PeerJ"},{"issue":"13","key":"bib20","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1093\/hmg\/ddy128","article-title":"Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65","volume":"27","author":"Choi","year":"2018","journal-title":"Hum Mol Genet"},{"issue":"12","key":"bib21","doi-asserted-by":"publisher","first-page":"2207","DOI":"10.1002\/pro.5560031206","article-title":"A revised set of potentials for beta-turn formation in proteins","volume":"3","author":"Hutchinson","year":"1994","journal-title":"Protein Sci"},{"issue":"22","key":"bib22","doi-asserted-by":"publisher","first-page":"5229","DOI":"10.3390\/jcm10225229","article-title":"Clinical features and natural history in a cohort of Chinese Patients with RPE65-associated inherited retinal dystrophy","volume":"10","author":"Shi","year":"2021","journal-title":"J Clin Med"}],"container-title":["Translational Vision Science &amp; Technology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.2.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T13:30:36Z","timestamp":1770039036000},"score":1,"resource":{"primary":{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.2.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,2]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2,2]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.15.2.1","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,2]]}}}