Ocular manifestations of Blau syndrome
Sandip Suresh, Edmund Tsui
Abstract
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.