{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T18:19:11Z","timestamp":1794334751703,"version":"4.9.0"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T00:00:00Z","timestamp":1748390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology Case Reports"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.ajoc.2025.102360","type":"journal-article","created":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T06:15:45Z","timestamp":1748672145000},"page":"102360","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant"],"prefix":"10.1016","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7188-3125","authenticated-orcid":false,"given":"Yi","family":"Zhai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Kodida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4644-3339","authenticated-orcid":false,"given":"Brian G.","family":"Ballios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajoc.2025.102360_bib1","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2014.04.003","article-title":"Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy","volume":"94","author":"Sergouniotis","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajoc.2025.102360_bib2","first-page":"4546","article-title":"Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility","volume":"25","author":"Bedoni","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajoc.2025.102360_bib3","doi-asserted-by":"crossref","first-page":"E2925","DOI":"10.1073\/pnas.1523201113","article-title":"Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations","volume":"113","author":"Sun","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajoc.2025.102360_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","article-title":"ISCEV Standard for full-field clinical electroretinography (2015 update)","volume":"130","author":"McCulloch","year":"2015","journal-title":"Doc Ophthalmol"},{"key":"10.1016\/j.ajoc.2025.102360_bib5","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2208707119","article-title":"Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants","volume":"119","author":"Cehajic-Kapetanovic","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajoc.2025.102360_bib6","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/78182","article-title":"Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa","volume":"25","author":"Vervoort","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajoc.2025.102360_bib7","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.ajo.2024.05.034","article-title":"Phase 1\/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene therapy: safety and efficacy in RPGR-associated X-linked retinitis pigmentosa","volume":"267","author":"Michaelides","year":"2024","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajoc.2025.102360_bib8","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ajo.2024.11.021","article-title":"Subretinal gene therapy drug AGTC-501 for XLRP phase 1\/2 multicenter study (HORIZON): 24-month safety and efficacy results: subretinal gene therapy AGTC-501 for XLRP Ph 1\/2 24M results","volume":"271","author":"Yang","year":"2025","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajoc.2025.102360_bib9","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1111\/cge.13426","article-title":"Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies","volume":"94","author":"Patel","year":"2018","journal-title":"Clin Genet"},{"key":"10.1016\/j.ajoc.2025.102360_bib10","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22126410","article-title":"Novel TTLL5 variants associated with cone-rod dystrophy and early-onset severe retinal dystrophy","volume":"22","author":"Smirnov","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ajoc.2025.102360_bib11","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1186\/s13023-022-02295-9","article-title":"Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series","volume":"17","author":"Oh","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ajoc.2025.102360_bib12","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.exer.2013.05.003","article-title":"Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa","volume":"113","author":"Acton","year":"2013","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ajoc.2025.102360_bib13","doi-asserted-by":"crossref","first-page":"287","DOI":"10.3109\/13816819009015715","article-title":"Golden tapetal reflex in male patients with X-linked retinitis pigmentosa. Case report and practical implications","volume":"11","author":"van Osch","year":"1990","journal-title":"Ophthalmic Paediatr Genet"},{"key":"10.1016\/j.ajoc.2025.102360_bib14","doi-asserted-by":"crossref","DOI":"10.1001\/jamaophthalmol.2018.2640","article-title":"Mizuo-nakamura phenomenon in a middle-aged woman","volume":"136","author":"Pellerano","year":"2018","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ajoc.2025.102360_bib15","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1038\/eye.2008.170","article-title":"Foveal schisis with Mizuo phenomenon: etio-pathogenesis of tapetal reflex in X-linked retinoschisis","volume":"23","author":"Vincent","year":"2009","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.ajoc.2025.102360_bib16","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1167\/iovs.64.12.19","article-title":"RPGR: deep phenotyping and genetic characterization with findings specific to the 3'-end of ORF15","volume":"64","author":"Benson","year":"2023","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajoc.2025.102360_bib17","first-page":"329","article-title":"Novel pathogenic variants in Tubulin Tyrosine like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype","volume":"29","author":"Kolawole","year":"2023","journal-title":"Mol Vis"}],"container-title":["American Journal of Ophthalmology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451993625001136?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451993625001136?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T20:29:17Z","timestamp":1765398557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2451993625001136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":17,"alternative-id":["S2451993625001136"],"URL":"https:\/\/doi.org\/10.1016\/j.ajoc.2025.102360","relation":{},"ISSN":["2451-9936"],"issn-type":[{"value":"2451-9936","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajoc.2025.102360","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"102360"}}