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Published on: September 20, 2018
Ocular manifestations of Blau syndrome
1UCLA Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Purpose Of Review:
This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and reviews recently published literature.
Recent Findings:
A large multicenter prospective case series is underway, with 3-year preliminary results indicating the prevalence of uveitis, clinical characteristics and early data on its visual prognosis. Case reports have demonstrated the successful use of newer biologic agents.
Summary:
Blau syndrome is an exceedingly rare autoinflammatory disorder with skin, joint and eye manifestations. It is caused by autosomal dominant mutations of the NOD2 protein. Eye involvement is typically a chronic bilateral granulomatous iridocyclitis, often with multifocal choroiditis in the posterior segment. Treatment starts with topical and systemic steroids and often requires antimetabolites or biologic agents.
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