Last December there was an amazing study published in the American Journal of Ophthalmology that looked at 50 Blau syndrome patients being treated at 25 different medical centers around the world. https://www.ajo.com/article/S0002-9394(17)30371-9/fulltext Over an ongoing 5 year period the study followed patients for 1,2 or 3 years and looked at the progression of the disease on their eyes and the effectiveness of treatments.
The study found that the "hallmark finding in Blau syndrome uveitis is a chronic bilateral panuveitis with multifocal chorioretinal lesions." My understanding of this phrase is that most Blau syndrome patients have both eyes affected and that the uveitis penetrates through all layers of the uvea (unlike uveitis usually associated with JIA, where only the anterior of the uvea is affected). The term "chorioretinal lesions" I believe means that there is also commonly scarring present.
Initially, after reading this study thoroughly, I was very hopeful about use of the IL-1 inhibitor drug canukinubab. It states "An interesting observation is the possible value of IL-1 inhibition in treatment-resistant Blau syndrome. One of these patients is included in the current series."
However, after following up and hearing directly from some of the leading doctors who contributed to the study I was informed that even with continued canukinumab use, the uveitis in this patient later returned.
Unfortunately the findings of the study did not offer much in the way of solutions.
It was found that "despite maximal local treatment and additional systemic immunosuppression (albeit varied between centers), disease activity is insufficiently controlled in this group. Advances in the understanding of downstream effects of NOD2 mutations will likely contribute to the development of effective targeted therapies. "
So it is hoped that targeted therapies will become more apparent, once there is a better understanding of how NOD2 mutations work.
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