Indian Journal of Ophthalmology (Jan 2018)

Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab

  • Anmol U Naik,
  • Radha Annamalai,
  • Jyotirmay Biswas

DOI
https://doi.org/10.4103/ijo.IJO_629_18
Journal volume & issue
Vol. 66, no. 10
pp. 1483 – 1485

Abstract

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The classic entity of autosomal dominant Blau syndrome (BS) consists of arthritis, dermatitis, and uveitis, occurring as a result of mutations in the NOD2 gene pattern recognition receptor. Sporadic cases are those in which no known gene mutation is identifiable. Uveitis in BS can be refractory to conventional therapy. We report a case of sporadic Blau uveitis managed with adalimumab monotherapy after failing to respond to topical steroids, systemic steroids, methotrexate, and infliximab therapy sequentially. Uveitis resolved completely with adalimumab and the patient has had a disease-free period over a 2-year follow-up with bi-monthly injections for arthritis control.

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