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

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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.

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    Authors and Affiliations

    1. Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy

      Vittoria Bascherini, Bruno Frediani & Luca Cantarini

    2. Pediatrics Specialization, Second University of Naples, Naples, Italy

      Carmela Granato

    3. Interdisciplinary Department of Medicine, Rheumatology Unit, Policlinic Hospital, University of Bari, Bari, Italy

      Giuseppe Lopalco & Florenzo Iannone

    4. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

      Giacomo Emmi

    5. Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Florence, Italy

      Lorenzo Vannozzi & Daniela Bacherini

    6. Ophthalmology and Neurosurgery Department, University of Siena, Siena, Italy

      Rossella Franceschini

    7. Institute of Ophthalmology, Università Cattolica Sacro Cuore, Fondazione Policlinico A. Gemelli, Rome, Italy

      Annabella Salerni

    8. Division of Pediatric Surgery, Department of Medical Sciences, Surgery, and Neuroscience, University of Siena, Siena, Italy

      Francesco Molinaro & Mario Messina

    9. Division of Rheumatology, Allergy, and Clinical Immunology, University of CA, Davis, USA

      Carlo Selmi

    10. Division of Rheumatology and Clinical Immunology, Humanitas Research Hospital, Rozzano, Milan, Italy

      Carlo Selmi

    11. Institute of Pediatrics, Università Cattolica Sacro Cuore, Fondazione Policlinico A. Gemelli, Rome, Italy

      Donato Rigante

    12. Rheumatology Unit, Policlinico “Le Scotte”, University of Siena, viale Bracci n. 1, 53100, Siena, Italy

      Luca Cantarini

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    Correspondence to Luca Cantarini.

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    Vittoria Bascherini, Carmela Granato, Donato Rigante and Luca Cantarini contributed equally to this work.

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    Bascherini, V., Granato, C., Lopalco, G. et al. The protean ocular involvement in monogenic autoinflammatory diseases: state of the art. Clin Rheumatol 34, 1171–1180 (2015). https://doi.org/10.1007/s10067-015-2920-3

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