[Monogenic autoinflammatory uveitis].

Abstract

Monogenic autoinflammatory uveitis belongs to the spectrum of monogenic autoinflammatory diseases. When early-onset uveitis is associated with specific extra-ocular manifestations, particularly in a familial or geographical context, it guides the clinician towards a diagnosis of a monogenic autoinflammatory disease. The clinical presentation and mode of inheritance will help identify the underlying cause, and the detection of a pathogenic variant will confirm the diagnosis and guide the management approach. In this review, we outline the main monogenic autoinflammatory uveitis conditions that clinicians should be aware of: Blau syndrome, ROSAH syndrome, cryopyrin-associated periodic syndromes (CAPS), partial mevalonate kinase deficiency, A20 haploinsufficiency, and NEMO syndrome.