Sarcoidosis-associated uveitis, is the predominant ocular sarcoidosis presentation, which affects both adults and children. For adults, international ocular sarcoidosis criteria (IWOS) and sarcoidosis-associated uveitis criteria (SUN) are defined. However, for children they are not yet established internationally. Due to the specificity of pediatric manifestations of sarcoidosis, this task is even more challenging. In children, sarcoidosis is subdivided into Blau syndrome and early-onset sarcoidosis (BS/EOS) affecting younger children (< 5 years) and the one affecting older children with clinical presentation resembling adults. Differential diagnosis, clinical work-up as well as diagnostic criteria should be adapted to each age group. In this article, we review the clinical manifestation of sarcoidosis-associated uveitis in adults and children and the sensitivity and specificity of various ocular sarcoidosis diagnostic modalities, including chest X-ray and CT, FDG PET-CT, gallium-67 scintigraphy, bronchoalveolar lavage fluid, genetic testing for NOD2 mutations and serum biomarkers, such as ACE, lysozyme and IL2R.

Department of Experimental Physiology and Pathophysiology Medical University of Warsaw Warsaw Poland

Department of Ophthalmology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Department of Ophthalmology Centre Hospitalier Universitaire Brugmann Brussels Belgium

Department of Ophthalmology Centre Hospitalier Universitaire Saint Pierre Brussels Belgium

Department of Ophthalmology Independent Public University Eye Hospital Warsaw Poland

Université Libre de Bruxelles Brussels Belgium

University College London London UK

Uveitis Service Moorfields Eye Hospital National Health Service Foundation Trust London London UK

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Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease