{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:09Z","timestamp":1756312809530,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,6,10]]},"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1136\/bcr-2025-266104","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T14:25:26Z","timestamp":1750775126000},"page":"e266104","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Exon 2 mutation of NDP gene presenting as extensive peripheral retinal ischaemia: a manifestation of Norrie disease"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1454-2655","authenticated-orcid":false,"given":"Ashish","family":"Markan","sequence":"first","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences New Delhi, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simar Rajan","family":"Singh","sequence":"additional","affiliation":[{"name":"Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deeksha","family":"Katoch","sequence":"additional","affiliation":[{"name":"Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9431-6206","authenticated-orcid":false,"given":"Ramandeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"2025082709175828000_18.6.e266104.1","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1007\/s10792-017-0589-0","article-title":"Clinical and genetic analysis of Indian patients with NDP-related retinopathies","volume":"38","author":"Sudha","year":"2018","journal-title":"Int Ophthalmol"},{"key":"2025082709175828000_18.6.e266104.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.07.047"},{"key":"2025082709175828000_18.6.e266104.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-139"},{"key":"2025082709175828000_18.6.e266104.4","doi-asserted-by":"crossref","first-page":"44","DOI":"10.4274\/tjo.galenos.2022.76436","article-title":"Avascular Peripheral Retina in Infants","volume":"53","author":"\u00d6zdek","year":"2023","journal-title":"Turk J Ophthalmol"},{"key":"2025082709175828000_18.6.e266104.5","doi-asserted-by":"crossref","first-page":"269","DOI":"10.4103\/sjopt.sjopt_63_23","article-title":"Pediatric retinal vascular disorders: From translational sciences to clinical practice","volume":"37","author":"Maitra","year":"2023","journal-title":"Saudi J Ophthalmol"},{"key":"2025082709175828000_18.6.e266104.6","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.884722","article-title":"Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review","volume":"13","author":"Wawrzynski","year":"2022","journal-title":"Front Genet"},{"key":"2025082709175828000_18.6.e266104.7","first-page":"1","article-title":"Norrie\u2019s disease. A congenital progressive oculo-acoustico-cerebral degeneration","volume":"Suppl 89","author":"Warburg","year":"1966","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"2025082709175828000_18.6.e266104.8","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1080\/00206097709071827","article-title":"Audiological Findings in Norrie\u2019s Disease","volume":"16","author":"Parving","year":"1977","journal-title":"Int J Audiol"},{"key":"2025082709175828000_18.6.e266104.9","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.06554","article-title":"Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5\/6, and proteoglycan","volume":"4","author":"Chang","year":"2015","journal-title":"Elife"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:18:03Z","timestamp":1756311483000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,6,24]]},"published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1136\/bcr-2025-266104"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266104","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,6]]}}}