{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T03:02:37Z","timestamp":1785380557016,"version":"3.55.0"},"reference-count":24,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,9,8]],"date-time":"2024-09-08T00:00:00Z","timestamp":1725753600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["216593\/Z\/19\/Z"],"award-info":[{"award-number":["216593\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC)","award":["216593\/Z\/19\/Z"],"award-info":[{"award-number":["216593\/Z\/19\/Z"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)\/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included early-onset cataract (P1), optically empty vitreous with avascular membranes (P1, 2), nasal dragging of optic nerve heads associated with foveal hypoplasia (P1, 2), tractional retinoschisis on optical coherence tomography (P2), and peripheral circumferential vitreo-retinal interface abnormality resembling white-without-pressure (P3) progressing to pigmented chorio-retinal atrophy (P1, 2). P2 developed a macula-off retinal detachment, which was treated initially with encircling band + vitrectomy + gas, followed by vitrectomy + heavy silicone oil tamponade for re-detachment from new inferior breaks. Strong vitreo-retinal adhesion was noted intraoperatively, which prevented the separation of posterior hyaloid beyond the equator. Electroretinograms from P1&amp;2 demonstrated attenuated b-waves, a-waves, and flicker responses in light- and dark-adapted conditions, suggestive of generalised retinal dysfunction. Our patients demonstrated the clinical spectrum of Wagner syndrome, highlighting nasal dragging with foveal disruption as a distinguishing feature from other inherited vitreoretinopathies. Surgical outcomes demonstrate significant challenges in managing vitreo-retinal traction and need for further research into strategies to prevent sight loss.<\/jats:p>","DOI":"10.3390\/genes15091178","type":"journal-article","created":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T03:04:18Z","timestamp":1725851058000},"page":"1178","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multimodal Evaluation and Management of Wagner Syndrome\u2014Three Patients from an Affected Family"],"prefix":"10.3390","volume":"15","author":[{"given":"Tomasz","family":"Szeligowski","sequence":"first","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9956-6412","authenticated-orcid":false,"given":"Jasmina","family":"Cehajic-Kapetanovic","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"},{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabnam","family":"Raji","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"},{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9727-5275","authenticated-orcid":false,"given":"Ravi","family":"Purohit","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3246-4921","authenticated-orcid":false,"given":"Hoda","family":"Amin","sequence":"additional","affiliation":[{"name":"Hull University Teaching Hospitals NHS Trust, Hull HU1 3SA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1409-6045","authenticated-orcid":false,"given":"Chetan K.","family":"Patel","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"},{"name":"Great Ormond Street Hospital for Children, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0065-9131","authenticated-orcid":false,"given":"Kanmin","family":"Xue","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"},{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"},{"name":"Great Ormond Street Hospital for Children, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s00417-017-3800-0","article-title":"WAGNER syndrome: Anatomic, functional and genetic characterization of a Portuguese family","volume":"256","author":"Rocha","year":"2018","journal-title":"Graefe\u2019s Arch. 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