title: The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
abstract: Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1β. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.
authors.affiliation: Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Bascherini
authors.forename: Carmela
authors.initials: C
authors.lastname: Granato
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lopalco
authors.forename: Giacomo
authors.initials: G
authors.lastname: Emmi
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Vannozzi
authors.forename: Daniela
authors.initials: D
authors.lastname: Bacherini
authors.forename: Rossella
authors.initials: R
authors.lastname: Franceschini
authors.forename: Florenzo
authors.initials: F
authors.lastname: Iannone
authors.forename: Annabella
authors.initials: A
authors.lastname: Salerni
authors.forename: Francesco
authors.initials: F
authors.lastname: Molinaro
authors.forename: Mario
authors.initials: M
authors.lastname: Messina
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Carlo
authors.initials: C
authors.lastname: Selmi
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D001168:Arthritis / Q000235:genetics / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics / Q000276:immunology; D016207:Cytokines / Q000378:metabolism; D005128:Eye Diseases / Q000276:immunology*; D010505:Familial Mediterranean Fever / Q000235:genetics / Q000276:immunology; D005260:Female; D005334:Fever / Q000235:genetics / Q000276:immunology; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics / Q000276:immunology; D006801:Humans; D007249:Inflammation / Q000276:immunology*; D053583:Interleukin-1beta / Q000378:metabolism; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000235:genetics / Q000276:immunology; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency; D012507:Sarcoidosis; D013585:Synovitis / Q000235:genetics / Q000276:immunology; D014605:Uveitis / Q000235:genetics / Q000276:immunology
chemical_list: D016207:Cytokines; D053583:Interleukin-1beta; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase
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