2009 OMIG, Abstract 18

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Muckle-Wells Syndrome: Ophthalmic Findings in Seven Patients.
J.M. Schrieber¹, N.P. Barney^1,2
University of Wisconsin School of Medicine and Public Health¹,
Madison, WI, Dept. of Ophthalmology and Visual Sciences²

Purpose: To describe the ophthalmic and systemic findings in a group of patients with Muckle-Wells Syndrome.  Muckle-Wells Syndrome (MWS), first described in 1962, is a rare genetic disorder in the Cryopyrin-Associated Periodic Syndrome (CAPS) spectrum of periodic fever syndromes. MWS is caused by mutations in the NLRP3/CIAS1 gene, which encodes cryopyrin, a regulator of IL-1 production.
Methods: Following IRB exemption, we retrospectively reviewed the patient records and photographic files of 7 patients with Muckle-Wells Syndrome presenting to the University of Wisconsin (UW) Department of Ophthalmology and Visual Sciences. Inclusion criteria for our review included the diagnosis of Muckle-Wells Syndrome proven by genetic testing.  Complete medical and ocular histories were obtained.  All patients had at least one complete eye exam, including fundus photos and visual field testing.  Additionally, they underwent Rheumatology and Neurology evaluations. We compiled the findings and had the opportunity to observe a subset over a one-year period of time while they initiated a study medication. 
Results: The average duration of observation was 42 months (range, 29 weeks to 18 years), with most patients followed less than 2 years. Six patients (86%) were female.  Median age at diagnosis was 20 years (range, 1 year to 48 years). Past medical history included urticarial rash (86%), arthralgias/arthritis (100%), and fever in 57% of patients.  One patient had active arthritis at presentation.  Past ocular history was remarkable for conjunctivitis (71%), uveitis (29%), and scleritis/episcleritis in 29% of patients.  Ophthalmology exam revealed C/D ≤ 0.2 (100%), elevated nerve with sharp margins (71%), and abnormal visual field test in 43% of patients.  During a one year period of follow-up, 43% of patients had an acute inflammatory episode of uveitis or conjunctivitis.
Conclusion: Muckle-Wells Syndrome is a rare disorder that is difficult to diagnose and often is considered in the differential diagnosis with Juvenile Idiopathic Arthritis, and Lupus.  The optic nerve findings may be interpreted as indicating the presence of papilledema.  Careful history and pertinent eye findings can assist in the diagnosis of this rare disease.
Funding:RPB:Unrestricted grant to the Dept. of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health.

Disclosure:  N