title: Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene.
abstract: 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.
authors: Children's National Medical Center, Department of Ophthalmology, George Washington University, Washington, DC, USA. veena.raiji@gmail.com
authors: Veena Rao
authors: VR
authors: Raiji
authors: Marijean M
authors: MM
authors: Miller
authors: L K
authors: LK
authors: Jung