70 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina ■ BRIEF REPORT ■ Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center Heloisa Nascimento, MD; Jacqueline M. Sousa, MD; Délia González Fernández, MD, Gustavo H.A. Salomão, MD; Elcio. H. Sato, MD; Cristina Muccioli, MD; Rubens Belfort Jr., MD, PhD ABSTRACT: 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 oph- thalmologic manifestations of the disease and a positive genetic test result for the presence of a mu- tation 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 predniso- lone was administered to all patients; inflamma- tion 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 dexametha- sone 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 bet- ter. 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.] INTRODUCTION Blau-Jabs syndrome (BJS), first described simultane- ously by Blau and Jabs in 1985, is an autosomal domi- nant chronic inflammatory syndrome defined by early onset of noncaseating granulomatous dermatitis, arthri- tis, and uveitis. 1,2 The disease is rare, with fewer than 200 cases reported by 2015, most of them with onset in white patients younger than 4 years of age. 3-5 The main differential diagnosis is sarcoidosis. 4,5 BJS is distin- guished from sarcoidosis by the absence of pulmonary involvement and adenopathies, the arthritis pattern, and familial inheritance 6 related to the CARD15 (cas- pase activation and recruitment domain [CARD] family, member 15)/NOD2 (nucleotide-binding oligomeriza- tion domain-containing protein 2) gene on chromosome 16q12, identified in 2001. 4,5,7 This gene also is involved in Crohn’s disease. 7 Anterior, posterior, and diffuse uveitis, and corne- al opacities might occur. 7-9 Ocular involvement is de- scribed as the most relevant morbidity of BJS. 3 Uveitis generally is later and bilateral and might lead to low vi- sual acuity (VA) in up to 46% of cases. 7,10-12 Other ocu- lar lesions are conjunctival nodules and multifocal cho- roidal and granulomatous optic disc lesions. 10,12 Most cases are treated with oral steroids; 5,13 many also need immunosuppressive agents. Recurrences are common. 7 Biologic anti-cytokine agents have been suggested to be promising treatments in refractory cases. 3,14 The goals of the current study were to increase the information in the literature about the demographic, clinical ophthalmological and systemic findings, and the beneficial treatments for this rare disease. From the Department of Ophthalmology, Federal University of São Paulo, UNIFESP – Escola Paulista de Medicina, Brazil. Originally submitted April 7, 2017. Revision received April 7, 2017. Accepted for publication May 1, 2017. The authors report no relevant fnancial disclosures. Address correspondence to Heloisa Nascimento, MD, Rua Botucatu, 821 – 1o. Andar, São Paulo, SP/ Brazil 04023-062; email: helomn@gmail.com. doi: 10.3928/23258160-20171215-12