Ocular manifestations of Blau syndrome

Curr Opin Ophthalmol. 2020 Nov;31(6):532-537. doi: 10.1097/ICU.0000000000000705.


Purpose of review: This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and reviews recently published literature.

Recent findings: A large multicenter prospective case series is underway, with 3-year preliminary results indicating the prevalence of uveitis, clinical characteristics and early data on its visual prognosis. Case reports have demonstrated the successful use of newer biologic agents.

Summary: Blau syndrome is an exceedingly rare autoinflammatory disorder with skin, joint and eye manifestations. It is caused by autosomal dominant mutations of the NOD2 protein. Eye involvement is typically a chronic bilateral granulomatous iridocyclitis, often with multifocal choroiditis in the posterior segment. Treatment starts with topical and systemic steroids and often requires antimetabolites or biologic agents.

Publication types

  • Review

MeSH terms

  • Arthritis* / genetics
  • Humans
  • Multifocal Choroiditis
  • Mutation
  • Nod2 Signaling Adaptor Protein / genetics
  • Sarcoidosis
  • Synovitis* / genetics
  • Uveitis* / genetics


  • Nod2 Signaling Adaptor Protein

Supplementary concepts

  • Blau syndrome