Published in:
Open Access
01-11-2013 | Meeting abstract
OR3-002 – Blau Syndrome cohort study: ocular outcome
Authors:
CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira Knupp, F Mackenson, J Arostegui, J Anton Lopez, J Fernandez-Martin, C Wouters
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
BS is an autosomal dominant monogenic granulomatous disease due to gain of function mutations at or near the NACHT domain of NOD2. It is characterized by a triad of granulomatous polyarthritis, uveitis and rash. Retrospective work by our group showed a life time risk of ocular involvement of 60% with significant morbidity and poor visual outcome. Prospective studies on natural history of visual outcome are not available. In view of current lack of effective therapies, research on relevant pathways downstream NOD2 is essential and may lead to appropriate targeted drug development. …
