{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T05:12:58Z","timestamp":1784265178626,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To determine whether patients with juvenile systemic granulomatous disease (<jats:styled-content style=\"fixed-case\">JSGD<\/jats:styled-content>) (Blau syndrome) and uveitis have a characteristic ocular phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and imaging data were collected retrospectively from patients attending the Regional Combined Paediatric Rheumatology and Ocular Inflammatory Service, Bristol Eye Hospital. General demographic information, laterality of the uveitis, age at onset, anatomical classification and course of the uveitis, clinical phenotype and specific <jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2 mutation were recorded for each patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventeen eyes from nine patients (five males; four females) were included in the study. Mean age at the disease onset was 15\u00a0months, range 1\u201384\u00a0months. Eight patients had bilateral uveitis. Anterior uveitis was present in five eyes, intermediate uveitis in two eyes, and there were 10 eyes with panuveitis, manifesting as multifocal choroiditis. Appearance of optic disc included indistinct disc margins in six eyes, optic nerve head pallor in six eyes, optic disc vessel sheathing in four eyes, and there was peripapillary hypo\/hyperpigmentation in 13 eyes accompanied with characteristic peripapillary nodular excrescences. Among <jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2 mutations, the p.R334W was the most commonly detected (n: four cases), and three patients carried novel variants, the p.E338D and p.D390V variants in one patient, and the p.H520Y and p.Q809K variants in two different patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Chronic bilateral panuveitis and a nodular peripapillary appearance in childhood onset uveitis are characteristic features of <jats:styled-content style=\"fixed-case\">JSGD<\/jats:styled-content>, which support the need for an appropriate genetic <jats:styled-content style=\"fixed-case\">NOD<\/jats:styled-content>2 analysis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12544","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T02:58:45Z","timestamp":1410404325000},"page":"253-257","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (<scp>B<\/scp>lau syndrome)"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0055-9547","authenticated-orcid":false,"given":"Ester","family":"Carre\u00f1o","sequence":"first","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine M.","family":"Guly","sequence":"additional","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Chilov","sequence":"additional","affiliation":[{"name":"Save Sight Institute University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Hinchcliffe","sequence":"additional","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I.","family":"Arostegui","sequence":"additional","affiliation":[{"name":"Department of Immunology\u2010CDB Hospital Clinic\u2010IDIBAPS Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard W. J.","family":"Lee","sequence":"additional","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK"},{"name":"School of Clinical Sciences Faculty of Medicine University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew D.","family":"Dick","sequence":"additional","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK"},{"name":"School of Clinical Sciences Faculty of Medicine University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athimalaipet V.","family":"Ramanan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology Bristol Royal Hospital for Children Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.22966"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80394-2"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/513782"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0530276100"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.118.10.1386"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.09-2526"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80312-3"},{"key":"e_1_2_5_9_1","first-page":"13","article-title":"Sarcoidosis in young children","volume":"136","author":"Hetherington S","year":"1982","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(85)90286-4"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2005.03.057"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2972"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.2012.02483.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-012-8346-7"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2004.01.019"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01709-9"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12016"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcq188"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng720"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.2006.apm_522.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(70)90044-6"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24134"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.22122"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198201143060208"}],"container-title":["Acta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Faos.12544","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.12544","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/aos.12544","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.12544","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T04:06:07Z","timestamp":1694405167000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/aos.12544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1111\/aos.12544"],"URL":"https:\/\/doi.org\/10.1111\/aos.12544","archive":["Portico"],"relation":{},"ISSN":["1755-375X","1755-3768"],"issn-type":[{"value":"1755-375X","type":"print"},{"value":"1755-3768","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,10]]},"assertion":[{"value":"2014-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-07-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-09-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}