Retinal Vasculitis in Familial Blau Syndrome.

Abstract excerpt

INTRODUCTION: Blau syndrome is a rare autosomal dominant condition resulting from mutations in the Nucleotide Oligomerization Domain of 2 ;(NOD2) gene. The disease typically presents in early childhood with a triad of arthritis, dermatitis, and uveitis. In this report, we describe retinal vasculitis as a rare phenotype in a family affected by Blau syndrome. METHODS: Retrospective case series of 3 family members...

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