BACKGROUND/PURPOSE: Juvenile systemic granulomatous disease (JSGD), also known as Blau 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.
METHODS: 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 NOD2 mutation were recorded for each patient. All data were recorded in a database designed in Microsoft® Access®. Statistical analysis was performed using SPSS 20.0 (Cary, NC).
RESULTS: Seventeen eyes from 9 patients (5 males; 4 females) were included in the study. Mean age at the disease onset was 15 months; range 1-84 months. Eight patients had bilateral uveitis. Anterior uveitis was present in five eyes, intermediate uveitis in 2 eyes and there were 10 eyes with panuveitis, manifesting as multifocal choroiditis. Appearance of optic disc included indistinct disc margins in 6 eyes, optic nerve head palor in 6 eyes and optic disc vessels sheathing in 4 eyes. Fundal appearance included peripapillary hypo/hyperpigmention in 13 eyes accompanied with characteristic peripapillary nodular excrescences. Among NOD2 mutations, the p.R334W was the most commonly detected (n: 4 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.
CONCLUSION: Chronic bilateral panuveitis and a nodular peripapillary appearance in childhood onset uveitis are characteristic features of JSGD, which support the need for an appropriate genetic NOD2 analysis.