Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center.

In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients with clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patients; inflammation was controlled in six patients with at least one immunosuppressive drug. Infliximab (Remicade; Janssen Pharmaceuticals, Beerse, Belgium) and etanercept (Enbrel; Amgen, Thousand Oaks, CA) were used to treat two cases refractory to the anti-inflammatory drugs. A subconjunctival dexamethasone implant (Ozurdex; Allergan, Irvine, CA) and a periocular injection of triamcinolone were used in one case to achieve inflammation control. Six patients achieved a visual acuity of 20/25 or better. The authors conclude that periocular treatment with steroid injections might be effective adjuvant therapy to control ocular inflammation. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:70-75.].