{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T12:40:32Z","timestamp":1776688832187,"version":"3.51.2"},"reference-count":18,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,31]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).<\/jats:p>\n               <jats:p>We describe the ocular findings in a patient with coexisting PPV, SWS and KTS<\/jats:p>","DOI":"10.1136\/bcr-2022-252746","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T09:55:14Z","timestamp":1668592514000},"page":"e252746","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Ocular features in a patient presenting with a rare combination of multiple phakomatoses"],"prefix":"10.1136","volume":"15","author":[{"given":"Vijayalakshmi A","family":"Senthilkumar","sequence":"first","affiliation":[{"name":"Department of Glaucoma, Aravind Eye Hospital, Madurai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1964-1743","authenticated-orcid":false,"given":"Piyush","family":"Kohli","sequence":"additional","affiliation":[{"name":"Department of Vitreoretinal services, C.L. Gupta Eye Institute, Moradabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitaranjan","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Glaucoma, Aravind Eye Hospital, Madurai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kavitha","family":"Mamchisetti","sequence":"additional","affiliation":[{"name":"Department of Glaucoma, Aravind Eye Hospital, Madurai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"2025082801525939000_15.11.e252746.1","first-page":"1","article-title":"Ophthalmic alterations in the Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the Phakomatosis pigmentovascularis: an independent group of conditions?","volume":"2015","author":"Abdolrahimzadeh","year":"2015","journal-title":"Biomed Res 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