The protean ocular involvement in monogenic autoinflammatory diseases: state of the art

Vittoria Bascherini, Carmela Granato, Giuseppe Lopalco, Giacomo Emmi, Lorenzo Vannozzi, Daniela Bacherini, Rossella Franceschini, Florenzo Iannone, Annabella Salerni, Francesco Molinaro, Mario Messina, Bruno Frediani, Carlo Selmi, Donato Rigante, Luca Cantarini

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

13 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)1171-1180
Numero di pagine10
RivistaClinical Rheumatology
Stato di pubblicazionePubblicato - 2015


  • Autoinflammation


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