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The eye involvement in monogenic autoinflammatory diseases: literature review and update

1, 2, 3, 4, 5, 6, 7, 8

 

  1. Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.
  2. Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.
  3. Department of Ophthalmology, Humanitas Clinical and Research Centre, Rozzano (Milan), Italy.
  4. Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.
  5. Institute of Paediatrics, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli”, Rome, Italy.
  6. Ophthalmology Unit of the Department of Medicine, Surgery and Neuroscience, University of Siena, Italy.
  7. Department of Paediatrics, University of Padova, Italy.
  8. Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy. cantariniluca@hotmail.com

CER10995
2018 Vol.36, N°1 ,Suppl.110
PI 0044, PF 0053
Review

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PMID: 29742057 [PubMed]

Received: 27/11/2017
Accepted : 07/12/2017
In Press: 03/05/2018
Published: 03/05/2018

Abstract

Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper activation of the innate immune system. This in turn determines recurrent episodes of systemic inflammation characterised by fever, which is variously combined with a wide range of inflammatory manifestations involving the skin, joints, serous membranes, gastrointestinal tract, and central nervous system. As shown by research efforts conducted during the last decade, the eye is not exempt from the systemic inflammatory process and may be involved in almost all of the most frequent AIDs, with several distinct peculiarities. Ocular affections may severely impact patients’ quality of life due to orbital pain, impairment of visual acuity, and/ or long-term, sight-threatening complications. Consequently, in the context of a multidisciplinary team, ophthalmologists should be aware of ocular manifestations related to these disorders as they may have a dominant diagnostic weight in patients with a challenging presentation as well as a salient role in therapeutic choice in sight-threatening situations. This review describes a variety of aspects of ophthalmologic involvement in AIDs, looking at both well-recognised eye manifestations as well as rarely reported ocular presentations, with a particular focus on the recent literature.

Rheumatology Article