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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1171-1180
Number of pages10
JournalClinical Rheumatology
Volume34
Issue number7
DOIs
Publication statusPublished - Jul 23 2015

Keywords

  • Anakinra
  • Biologics
  • Canakinumab
  • Eye
  • Interleukin (IL)-1β
  • Uveitis

ASJC Scopus subject areas

  • Rheumatology

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