OR3-002 – Blau Syndrome cohort study: ocular outcome

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.