Blau Syndrome

  • Aniruddha Agarwal
  • Carlos D. Rosé
  • Carine H. Wouters
  • Catherine Guly
  • Quan Dong Nguyen
Living reference work entry


Blau syndrome is a rare inherited autoinflammatory granulomatous disease that presents in early childhood with skin rash, arthritis, and uveitis. Blau syndrome is characterized by the presence of NOD2 gene mutations and noncaseating granulomas in the affected organ systems, including ocular tissues. Patients with uveitis may have protean manifestations with involvement of both anterior and posterior segment of the eye. In the index chapter, systemic and ocular features among NOD2-positive confirmed cases of Blau syndrome are described.


Juvenile Idiopathic Arthritis Anterior Uveitis NOD2 Gene Ocular Manifestation Posterior Uveitis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Suggested Reading

  1. Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV. Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). Acta Ophthalmol. 2015;93(3):253–7.CrossRefPubMedGoogle Scholar
  2. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011;23(5):411–8.CrossRefPubMedGoogle Scholar
  3. Rosé CD, Pans S, Casteels I, Anton J, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–16.CrossRefGoogle Scholar
  4. Rosenbaum JT, Planck SR, Davey MP, Iwanaga Y, Kurz DE, Martin TM. With a mere nod, uveitis enters a new era. Am J Ophthalmol. 2003;136(4):729–32.CrossRefPubMedGoogle Scholar

Copyright information

© Springer India 2016

Authors and Affiliations

  • Aniruddha Agarwal
    • 5
  • Carlos D. Rosé
    • 2
  • Carine H. Wouters
    • 3
  • Catherine Guly
    • 4
  • Quan Dong Nguyen
    • 1
  1. 1.Department of Ophthalmology, Stanley M. Truhlsen Eye InstituteUniversity of Nebraska Medical CenterOmahaUSA
  2. 2.Department of Pediatric RheumatologyNemours/Alfred I. duPont Hospital for ChildrenWilmingtonUSA
  3. 3.Department of Pediatric RheumatologyCatholic University of Leuven (KU Leuven)LeuvenBelgium
  4. 4.University Hospitals Bristol NHS TrustBristolUK
  5. 5.Department of Ophthalmology, Advanced Eye CentrePost Graduate Institute of Medical Education and Research (PGIMER)ChandigarhIndia

Personalised recommendations