Cryopyrin-Associated Periodic Syndrome in Neuro-Ophthalmology

Abstract

C ryopyrin-associated periodic syndromes (CAPS) are a set of rare inflammatory conditions related to disorders of the protein, cryopyrin. CAPS manifests as recurrent coldinduced urticaria, fever, hearing loss, and meningitis which vary by severity: a milder form (familial cold autoinflammatory syndrome [FCAS]); an intermediate form (Muckle-Wells syndrome [MWS]); and a more severe form (chronic infantile neurological cutaneous and articular syndrome [CINCA]), previously called neonatal-onset multisystem inflammatory disease (1,2). We describe 2 cases of CAPS presenting with neuro-ophthalmic findings including optic neuropathy. To the best of our knowledge, these are the first such cases in the English language neuro-ophthalmic literature.

Cryopyrin-assoziierte periodische Syndrome

“…2). Die Augen können auch in Form von Episkleritis, Keratitis, anteriorer/posteriorer Uveitis, Bandkeratopathie, Hornhautanomalien sowie optischer Neuropathie betroffen sein [17]. Bei schweren Phänotypen kann ein Papillen ödem auftreten, das zu einer Optikusatrophie führt [18,19].…”