{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:01:44Z","timestamp":1791928904689,"version":"4.3.4"},"reference-count":25,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"5","license":[{"start":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T00:00:00Z","timestamp":1779062400000},"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":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2026,5,18]]},"DOI":"10.1167\/iovs.67.5.41","type":"journal-article","created":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T14:30:43Z","timestamp":1779114643000},"page":"41","source":"Crossref","is-referenced-by-count":0,"title":["RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model"],"prefix":"10.1167","volume":"67","author":[{"given":"Junki","family":"Sho","sequence":"first","affiliation":[{"name":"Cell and Gene Therapy in Ophthalmology Laboratory, RIKEN BZP, Laboratory for Animal Resources and Genetic Engineering, RIKEN BDR, kobe, Hyogo, Japan"},{"name":"Vision Care Inc., Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsuko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akishi","family":"Onishi","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy in Ophthalmology Laboratory, RIKEN BZP, Laboratory for Animal Resources and Genetic Engineering, RIKEN BDR, kobe, Hyogo, Japan"},{"name":"Vision Care Inc., Kobe, Hyogo, Japan"},{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Ritsumeikan University, Kusatsu, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikiya","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy in Ophthalmology Laboratory, RIKEN BZP, Laboratory for Animal Resources and Genetic Engineering, RIKEN BDR, kobe, Hyogo, Japan"},{"name":"Vision Care Inc., Kobe, Hyogo, Japan"},{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Ritsumeikan University, Kusatsu, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiki","family":"Sakai","sequence":"additional","affiliation":[{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiko","family":"Hirami","sequence":"additional","affiliation":[{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Mandai","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy in Ophthalmology Laboratory, RIKEN BZP, Laboratory for Animal Resources and Genetic Engineering, RIKEN BDR, kobe, Hyogo, Japan"},{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"},{"name":"Ritsumeikan University, Kusatsu, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuo","family":"Kurimoto","sequence":"additional","affiliation":[{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayo","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Ritsumeikan University, Kusatsu, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Maeda","sequence":"additional","affiliation":[{"name":"Kobe City Eye Hospital, Kobe, Hyogo, Japan"},{"name":"Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan"},{"name":"Ritsumeikan University, Kusatsu, Shiga, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"issue":"3","key":"bib1","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/j.ymgme.2018.07.001","article-title":"Critical review of current MPS guidelines and management","volume":"126","author":"Stapleton","year":"2019","journal-title":"Mol Genet Metab"},{"issue":"12","key":"bib2","doi-asserted-by":"publisher","first-page":"1788","DOI":"10.1002\/humu.23613","article-title":"Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene","volume":"39","author":"Tomanin","year":"2018","journal-title":"Hum Mutat"},{"issue":"Suppl 2","key":"bib3","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s13052-018-0555-0","article-title":"ENT and mucopolysaccharidoses","volume":"44","author":"Bianchi","year":"2018","journal-title":"Ital J Pediatr"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"101324","DOI":"10.1016\/j.preteyeres.2024.101324","article-title":"Syndromic retinitis pigmentosa","volume":"107","author":"Karuntu","year":"2025","journal-title":"Prog Retin Eye Res"},{"issue":"3","key":"bib5","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1172\/JCI116268","article-title":"Arylsulfatase B-deficient mucopolysaccharidosis in rats","volume":"91","author":"Yoshida","year":"1993","journal-title":"J Clin Invest"},{"issue":"7","key":"bib6","first-page":"1050","article-title":"Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI","volume":"27","author":"Stramm","year":"1986","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"bib7","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.ymgme.2021.07.008","article-title":"MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment","volume":"135","author":"Entchev","year":"2022","journal-title":"Mol Genet Metab"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1006\/exer.1993.1067","article-title":"Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse","volume":"56","author":"Lazarus","year":"1993","journal-title":"Exp Eye Res"},{"issue":"6","key":"bib9","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1002\/jgm.302","article-title":"Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI","volume":"4","author":"Ho","year":"2002","journal-title":"J Gene Med"},{"issue":"5","key":"bib10","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1076\/ceyr.23.5.357.5444","article-title":"Adenoviral vector-mediated beta-glucuronidase cDNA transfer to treat MPS VII RPE in vitro","volume":"23","author":"Verdugo","year":"2001","journal-title":"Curr Eye Res"},{"issue":"1","key":"bib11","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1186\/s12974-020-01947-6","article-title":"GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease","volume":"17","author":"Demir","year":"2020","journal-title":"J Neuroinflammation"},{"issue":"1","key":"bib12","doi-asserted-by":"publisher","first-page":"29674","DOI":"10.1038\/s41598-025-15639-9","article-title":"Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G(M1)-gangliosidosis","volume":"15","author":"Jubran","year":"2025","journal-title":"Sci Rep"},{"issue":"4","key":"bib13","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1016\/j.ymgme.2014.02.002","article-title":"GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization","volume":"111","author":"Muthupalani","year":"2014","journal-title":"Mol Genet Metab"},{"issue":"5","key":"bib14","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1159\/000127831","article-title":"Involvement of retinal neurons and pigment epithelial cells in a murine model of Sandhoff disease","volume":"40","author":"Sango","year":"2008","journal-title":"Ophthalmic Res"},{"issue":"1","key":"bib15","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.survophthal.2013.02.005","article-title":"Beyond the cherry-red spot: ocular manifestations of sphingolipid-medicated neurodegenerative and inflammatory disorders","volume":"59","author":"Chen","year":"2014","journal-title":"Surv Ophthalmol"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"100037","DOI":"10.1194\/jlr.TR120000972","article-title":"Sphingolipids as critical players in retinal physiology and pathology","volume":"62","author":"Simon","year":"2021","journal-title":"J Lipid Res"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"132","DOI":"10.3389\/fcell.2020.00132","article-title":"Retinal degeneration in MPS-IIIA mouse model","volume":"8","author":"Intartaglia","year":"2020","journal-title":"Front Cell Dev Biol"},{"issue":"3","key":"bib18","doi-asserted-by":"publisher","first-page":"108959","DOI":"10.1016\/j.isci.2024.108959","article-title":"Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB","volume":"27","author":"Scarcella","year":"2024","journal-title":"iScience"},{"issue":"1","key":"bib19","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1755-8417-2-4","article-title":"Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI","volume":"2","author":"Tessitore","year":"2009","journal-title":"Pathogenetics"},{"issue":"4","key":"bib20","first-page":"e58023","article-title":"Current concepts in the management of Sanfilippo syndrome (MPS III): a narrative review","volume":"16","author":"Alyazidi","year":"2024","journal-title":"Cureus"},{"issue":"11","key":"bib21","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1056\/NEJMoa1608368","article-title":"Autologous induced stem-cell-derived retinal cells for macular degeneration","volume":"376","author":"Mandai","year":"2017","journal-title":"N Engl J Med"},{"issue":"10","key":"bib22","doi-asserted-by":"publisher","first-page":"e179246","DOI":"10.1172\/jci.insight.179246","article-title":"iPSC-RPE patch restores photoreceptors and regenerates choriocapillaris in a pig retinal degeneration model","volume":"10","author":"Gupta","year":"2025","journal-title":"JCI Insight"},{"issue":"4","key":"bib23","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/nbt.4114","article-title":"Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration","volume":"36","author":"da Cruz","year":"2018","journal-title":"Nat Biotechnol"},{"issue":"6","key":"bib24","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1016\/j.ophtha.2023.12.028","article-title":"Long-term follow-up of a phase 1\/2a clinical trial of a stem cell-derived bioengineered retinal pigment epithelium implant for geographic atrophy","volume":"131","author":"Humayun","year":"2024","journal-title":"Ophthalmology"},{"issue":"11","key":"bib25","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.1016\/j.ophtha.2018.04.037","article-title":"Transplantation of human embryonic stem cell-derived retinal pigment epithelial cells in macular degeneration","volume":"125","author":"Mehat","year":"2018","journal-title":"Ophthalmology"}],"container-title":["Investigative Ophthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?doi=10.1167\/iovs.67.5.41","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:32:19Z","timestamp":1791927139000},"score":1,"resource":{"primary":{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?doi=10.1167\/iovs.67.5.41"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,18]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.67.5.41","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5,18]]}}}