Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene
Journal of AAPOS
Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. We report the case of a 2.5-year-old girl who presented for ophthalmic examination in the setting of rash and synovitis. Initially, small, evanescent, ovoid corneal subepithelial opacities unique to Blau syndrome were observed. She later developed a fulminant panuveitis that responded to immunomodulatory therapy. Subsequent genetic testing confirmed the diagnosis of Blau syndrome. Despite immunosuppression, at almost 7 years of age, she continues to have persistent panuveitis with vision of 20/20. Copyright © 2011 by the American Association for Pediatric Ophthalmology and Strabismus.
Raiji, V., Miller, M., & Jung, L. (2011). Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. Journal of AAPOS, 15 (2). http://dx.doi.org/10.1016/j.jaapos.2011.02.004