Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene

作者：Raiji Veena Rao^*; Miller Marijean M; Jung L K

来源：Journal of AAPOS, 2011, 15(2): 205-207.

DOI：10.1016/j.jaapos.2011.02.004

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.

• 出版日期2011-4