Ocular manifestations of Blau syndrome.

Sandip Suresh, Edmund Tsui

Current opinion in ophthalmology 2020 Nov

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This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and reviews recently published literature. 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. 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.