{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T01:53:51Z","timestamp":1767923631533,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,1,11]]},"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2017-224079","type":"journal-article","created":{"date-parts":[[2019,2,14]],"date-time":"2019-02-14T02:05:19Z","timestamp":1550109919000},"page":"bcr-2017-224079","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome"],"prefix":"10.1136","volume":"12","author":[{"given":"Daphna","family":"Prat","sequence":"first","affiliation":[{"name":"The Goldschleger eye institute , Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Israel"},{"name":"Sackler school of medicine, Tel Aviv university, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Ben Bassat Mizrachi","sequence":"additional","affiliation":[{"name":"The Goldschleger eye institute , Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Israel"},{"name":"Sackler school of medicine, Tel Aviv university, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicktoria","family":"Vishnevskia-Dai","sequence":"additional","affiliation":[{"name":"The Goldschleger eye institute , Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Israel"},{"name":"Sackler school of medicine, Tel Aviv university, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,2,12]]},"reference":[{"key":"2025082802454186000_12.2.bcr-2017-224079.1","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s10792-017-0526-2","article-title":"Analysis of clinical features and visual outcomes of pars planitis","volume":"38","author":"Berker","year":"2018","journal-title":"Int Ophthalmol"},{"key":"2025082802454186000_12.2.bcr-2017-224079.2","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1001\/jamaophthalmol.2016.3229","article-title":"Prevalence of noninfectious uveitis in the united states: A claims-based analysis","volume":"134","author":"Thorne","year":"2016","journal-title":"JAMA Ophthalmol"},{"key":"2025082802454186000_12.2.bcr-2017-224079.3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.162"},{"key":"2025082802454186000_12.2.bcr-2017-224079.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049981"},{"key":"2025082802454186000_12.2.bcr-2017-224079.5","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2283"},{"key":"2025082802454186000_12.2.bcr-2017-224079.6","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20021101"},{"key":"2025082802454186000_12.2.bcr-2017-224079.7","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2012.01.011"},{"key":"2025082802454186000_12.2.bcr-2017-224079.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103266"},{"key":"2025082802454186000_12.2.bcr-2017-224079.9","doi-asserted-by":"crossref","DOI":"10.1016\/j.ophtha.2017.01.028","article-title":"Optic Nerve Head Drusen as a Rare Manifestation of Cowden Syndrome: Multimodal Imaging","volume":"124","author":"Gama","year":"2017","journal-title":"Ophthalmology"},{"key":"2025082802454186000_12.2.bcr-2017-224079.10","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.11.2011.5273"},{"key":"2025082802454186000_12.2.bcr-2017-224079.11","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.ophtha.2011.09.057","article-title":"Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome","volume":"119","author":"Venturini","year":"2012","journal-title":"Ophthalmology"},{"key":"2025082802454186000_12.2.bcr-2017-224079.12","first-page":"3095","article-title":"Ophthalmic Phenotypes in Cowden Syndrome Associated With Germline PTEN Mutations","volume":"51","author":"Schneider","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-224079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:45:49Z","timestamp":1756374349000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-224079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,2,12]]},"published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1136\/bcr-2017-224079"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-224079","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2]]}}}