Ocular manifestations of the autoinflammatory syndromes

Ophthalmic Genet. 2012 Dec;33(4):179-86. doi: 10.3109/13816810.2012.695421. Epub 2012 Aug 27.


The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-associated periodic syndromes (CAPS) such as neonatal onset multisystem inflammatory disease (NOMID), familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), periodic fever syndromes, including familial Mediterranean fever (FMF), TNF receptor-1 associated periodic syndrome (TRAPS), and Blau syndrome. Ocular manifestations are frequent and diverse in affected patients, and visual impairment and blindness are not uncommon sequelae of chronic active disease. Novel therapeutic interventions targeting specific pathophysiologic mechanisms have been extremely promising in the treatment of these disorders. The purpose of this article is to provide a review of these disorders with a focus on pathogenesis, clinical manifestations, ophthalmologic involvement, and available treatment options.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / etiology*
  • Hereditary Autoinflammatory Diseases / complications*
  • Humans