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: Veena Rao Raiji, Marijean M Miller, L K Jung
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 15 Issue 2 Pg. 205-7 (Apr 2011) ISSN: 1528-3933 [Electronic] United States
• PMID: 21596301 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Chemical References

• Immunosuppressive Agents
• NOD2 protein, human
• Nod2 Signaling Adaptor Protein

Topics

• Arthritis
• Child, Preschool
• Chromosomes, Human, Pair 16 (genetics)
• Cranial Nerve Diseases (diagnosis, drug therapy, genetics)
• Female
• Humans
• Immunosuppressive Agents (therapeutic use)
• Nod2 Signaling Adaptor Protein (genetics)
• Panuveitis (diagnosis, drug therapy, genetics)
• Point Mutation
• Sarcoidosis
• Synovitis (diagnosis, drug therapy, genetics)
• Uveitis (diagnosis, drug therapy, genetics)
• Visual Acuity (physiology)