{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T21:19:18Z","timestamp":1787865558636,"version":"build-2784847793"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T00:00:00Z","timestamp":1779494400000},"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":[[2026,9]]},"DOI":"10.1016\/j.ajoc.2026.102606","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T06:05:27Z","timestamp":1779689127000},"page":"102606","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Concurrent Von Hippel-Lindau disease and enhanced S-cone syndrome leading to a distinct retinal phenotype"],"prefix":"10.1016","volume":"43","author":[{"given":"Maram","family":"AlEnazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman H.","family":"Badawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2966-951X","authenticated-orcid":false,"given":"Wael A.","family":"Alsakran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6350-7464","authenticated-orcid":false,"given":"Moustafa S.","family":"Magliyah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajoc.2026.102606_bib1","series-title":"Practical Clinical Endocrinology","first-page":"515","article-title":"Von Hippel-Lindau syndrome","author":"Igaz","year":"2021"},{"issue":"1","key":"10.1016\/j.ajoc.2026.102606_bib2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s40942-025-00721-1","article-title":"The clinical features and real-world treatment outcomes in von Hippel-Lindau-related retinal capillary hemangioblastomas","volume":"11","author":"Khan","year":"2025","journal-title":"Int J Retina Vitreous"},{"issue":"2","key":"10.1016\/j.ajoc.2026.102606_bib3","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00417-010-1482-y","article-title":"A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome","volume":"249","author":"Rocha-Sousa","year":"2011","journal-title":"Graefe\u2019s Arch Clin Exp Ophthalmol"},{"issue":"10","key":"10.1016\/j.ajoc.2026.102606_bib4","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1001\/jamaophthalmol.2013.4349","article-title":"Expanded clinical spectrum of enhanced S-Cone syndrome","volume":"131","author":"Yzer","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ajoc.2026.102606_bib5","article-title":"Collision of retinitis pigmentosa and von-Hippel lindau disease","author":"Zhuang","year":"2025","journal-title":"Am J Ophthalmol"},{"issue":"1","key":"10.1016\/j.ajoc.2026.102606_bib6","doi-asserted-by":"crossref","DOI":"10.1007\/s11033-025-10403-8","article-title":"Von Hippel\u2013Lindau syndrome: clinical features, genetic foundations, and management strategies","volume":"52","author":"Harbi","year":"2025","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ajoc.2026.102606_bib7","series-title":"GeneReviews\u00ae","article-title":"Von Hippel\u2013Syndrome Lindau-Syndrom","author":"van Leeuwaarde","year":"1993"},{"issue":"10","key":"10.1016\/j.ajoc.2026.102606_bib8","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1007\/s00381-020-04712-5","article-title":"Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment","volume":"36","author":"Klingler","year":"2020","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.ajoc.2026.102606_bib9","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.brainres.2008.01.028","article-title":"Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors","volume":"1236","author":"Oh","year":"2008","journal-title":"Brain Res"},{"key":"10.1016\/j.ajoc.2026.102606_bib10","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.625560","article-title":"Different phenotypes in pseudodominant inherited retinal dystrophies","volume":"9","author":"Habibi","year":"2021","journal-title":"Front Cell Dev Biol"},{"issue":"1","key":"10.1016\/j.ajoc.2026.102606_bib11","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1001\/archophthalmol.2008.534","article-title":"Phenotypic features of patients with NR2E3 mutations","volume":"127","author":"Pachydaki","year":"2009","journal-title":"Arch Ophthalmol"},{"issue":"11","key":"10.1016\/j.ajoc.2026.102606_bib12","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1002\/humu.21096","article-title":"NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), goldmann-favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)","volume":"30","author":"Schorderet","year":"2009","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1016\/j.ajoc.2026.102606_bib13","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s12325-018-0698-9","article-title":"Clinical efficacy and safety of current interventions for choroidal neovascularization associated with rare diseases: a systematic literature review","volume":"35","author":"Bennett","year":"2018","journal-title":"Adv Ther"},{"key":"10.1016\/j.ajoc.2026.102606_bib14","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ajo.2020.09.010","article-title":"Incidence and natural history of retinochoroidal neovascularization in enhanced S-Cone syndrome","volume":"222","author":"Nowilaty","year":"2021","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajoc.2026.102606_bib15","series-title":"Enhanced S-cone Syndrome, a mini-review","first-page":"189","author":"Wang","year":"2023"},{"key":"10.1016\/j.ajoc.2026.102606_bib16","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2024.101244","volume":"100","author":"Georgiou","year":"2024","journal-title":"Prog Retin Eye Res"},{"issue":"1","key":"10.1016\/j.ajoc.2026.102606_bib17","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0146040","article-title":"Increased probability of Co-Occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing","volume":"11","author":"Lal","year":"2016","journal-title":"PLoS One"}],"container-title":["American Journal of Ophthalmology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451993626000940?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2451993626000940?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T20:30:49Z","timestamp":1787862649000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2451993626000940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":17,"alternative-id":["S2451993626000940"],"URL":"https:\/\/doi.org\/10.1016\/j.ajoc.2026.102606","relation":{},"ISSN":["2451-9936"],"issn-type":[{"value":"2451-9936","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Concurrent Von Hippel-Lindau disease and enhanced S-cone syndrome leading to a distinct retinal phenotype","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.2026.102606","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"102606"}}