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Ester Carreno, Catherine M Guly, Michael Chilov, Annie Hinchcliffe, Juan I Aróstegui, Richard W J Lee, Andrew D Dick, Athimalaipet V Ramanan; Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau's syndrome).. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5302.
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Juvenile systemic granulomatous disease (JSGD), also known as Blau's syndrome, is a dominantly-inherited autoinflammatory disorder associated with gain-of-function mutations in the NOD2 gene. The aim of this study was to determine whether patients with JSGD and uveitis have a specific ocular phenotype.
Case series of patients with uveitis and a confirmed NOD2 mutation. Clinical and imaging data were retrospectively collected from patients attending to the Regional Ocular Inflammatory Service, Bristol Eye Hospital. General demographic information, visual acuity at the last visit, laterality of the uveitis, age at onset of clinical symptoms, anatomical classification and course of the uveitis, clinical phenotype, and specific NOD2 mutation were recorded for each patient. All data were collected in a database designed in Microsoft® Access®.
Seventeen eyes, 9 patients (5 males; 4 females). Mean age at the onset of symptoms was 15 months (range 1-84 months). Mean visual acuity at the last visit was 0.48 logMAR. Eight patients had bilateral uveitis. Anterior uveitis was present in five eyes, intermediate uveitis in 2 eyes and there were 10 eyes with panuveitis (which characteristically manifested in association with multifocal choroiditis). Disc margins were blurred in 6 eyes; the colour of the disc was pale in 6 eyes; the optic disc vessels were sheathed in 4 cases; peripapillary area was hypo/hyperpigmented in 13 eyes; 13 eyes showed nodular excrescences in the peripapillary area. The heterozygous p.R334W NOD2 mutation was the most frequently detected (n: 4 patients). The novel p.Q809K NOD2 mutation was identified in one patient.
There are characteristic peripapillary changes in patients with JSGD, which may assist early diagnosis and treatment. This is the first report of p.Q809K NOD2 mutation causing JSGD.
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