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

Jurgen Sota, Antonio Vitale, Claudia Fabiani, Bruno Frediani, Donato Rigante, Gian Marco Tosi, Maria Elisabetta Zannin, Luca Cantarini

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)44-53
Number of pages10
JournalClinical and Experimental Rheumatology
Volume36 Suppl 110
Issue number1
Publication statusPublished - May 10 2018

Keywords

  • Eye Diseases/etiology
  • Hereditary Autoinflammatory Diseases/complications
  • Humans
  • Keratoconus/etiology
  • Macular Edema/etiology
  • Papilledema/etiology
  • Retinitis Pigmentosa/etiology
  • Scleritis/etiology
  • Uveitis/etiology

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