Background CAPS is a rare autoinflammatory disease associated with mutations in the CIAS1 gene, encoding for NLRP3 that result in overactivation of the inflammasome and systemic inflammation. Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease which causes episodic fever attacks, sensorineural deafness, recurrent hives, arthritis and eye involvement.
Objectives Here we present the findings of eye involvement in a family whose 11 members have MWS.
Methods Clinical data was collected during the course of ongoing patient care.
Results We evaluated the clinical features of 11 patients who were referred to a tertiary care center. The median age of the patients was 25 years (range: 9–65). The ratio of females /males was 1.2 (6/5). All patients had arthritis with exacerbation on exposure to cold and recurrent episodes of pink eye. The median age of onset of ocular involvement was 8 years (2–45). We observed severe eye involvement in 36% of our cases, including band keratopathy, severe damage of corneal stroma and neovascularization. Corneal involvement and clouding was detected in four patient. Two of those had the diagnosis of keratoconus as well. Patients with keratoconus had corneal scarring due to corneal hydrops verified with corneal topography. The other two patients with corneal clouding had bant keratopathy. One of those patient was a 17 year old girl who had recurrent uveitis with hypopyon which necessiated the use of intravitreal dexamethasone implant. She also had posterior synechia of the iris to the lens. The other eye of that patient had signs of phthisis bulbi. The other patient with bant keraopathy was 46 years old male who had optic atrophy and tractional fibrovascular membranes at the posterior pole of the eye. Anakinra was used for treatment of 5 cases, and canakinumab of 3 cases. It was observed that the frequency of conjunctivitis decreased after anti IL-1 therapy. There was no mutation detected in the study of MEFV (all exons), TNFRSF1A (exons 2 to 7), MVK (all exons), NLRP3 (all exons), NOD2 (exons 4, 8 and 9) and PSTPIP1 (exons 10 and 11) genes.
Conclusions In this study, it has been shown that eye findings related to MWS can vary from conjunctivitis to severe uveitis. We want to emphasize that ocular involvement in MWS should be carefully assessed, since it can lead to visual impairment.
Disclosure of Interest None declared
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