title: Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome).
abstract: OBJECTIVE
  To determine whether patients with juvenile systemic granulomatous disease (JSGD) (Blau syndrome) and uveitis have a characteristic 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.
  
  
  RESULTS
  Seventeen eyes from nine patients (five males; four 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 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 NOD2 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Bristol Eye Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
authors.forename: Ester
authors.initials: E
authors.lastname: Carreño
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Guly
authors.forename: Michael
authors.initials: M
authors.lastname: Chilov
authors.forename: Annie
authors.initials: A
authors.lastname: Hinchcliffe
authors.forename: Juan I
authors.initials: JI
authors.lastname: Arostegui
authors.forename: Richard W J
authors.initials: RW
authors.lastname: Lee
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Dick
authors.forename: Athimalaipet V
authors.initials: AV
authors.lastname: Ramanan
mesh_terms: D017668:Age of Onset; D001168:Arthritis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D008297:Male; D008727:Methotrexate / Q000627:therapeutic use; D009154:Mutation; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D009900:Optic Nerve / Q000473:pathology*; D010641:Phenotype; D011239:Prednisolone / Q000627:therapeutic use; D012160:Retina / Q000473:pathology*; D012189:Retrospective Studies; D012507:Sarcoidosis; D013585:Synovitis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D014605:Uveitis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D014792:Visual Acuity; D056660:Hereditary Autoinflammatory Diseases
chemical_list: D005938:Glucocorticoids; D007166:Immunosuppressive Agents; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D011239:Prednisolone; D009173:Mycophenolic Acid; D008727:Methotrexate
keywords: Blau syndrome; Jabs syndrome; Juvenile systemic granulomatous disease; juvenile arthritis; juvenile uveitis; optic nerve