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Sandrine Boutboul, Elena Basli, Thomas Gaujoux, Marc Abitbol, Pablo Goldschmidt, Vincent Borderie, Laurent Laroche; OCT and HRT Analysis Of The Cornea In Muckle-Wells Syndrome. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1083.
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Muckle-Wells syndrome (MWS; MIM no. 191900) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, progressivesensorineural deafness, and the frequent development of systemic AA amyloidosis. MWS is associated with heterozygous mutations in a gene variously namedNALP3, CIAS1, and PYPAF1 that encodes a protein known as NALP3 or cryopyrin, which is a member of the recently characterized pyrin superfamily of deathdomain-fold proteins . Conjunctivitis in the eyes is a recurrent problem with MWS, especially during flare ups of symptoms. Many MWS patients have also been found to have a haze on their corneas, which does not affect vision nearly as much as one would expect for the degree of haze.
We describe a family affected by MWS. Diagnosis has been confirmed by mutation screening of the CIAS1 . All affected family members present heterozygous A439V mutation. They all present haze of their cornea. OCT and HRT of their corneas have been performed. The Heidelberg Retina Tomograph (HRT) is a confocal scanning laser ophthalmoscope. The instrument can be converted into a confocal corneal microscope using an optional add-on kit. The kit is composed of an additional microscope lens which attaches to the standard lens. Along with corneal analysis software, the HRT is able to image cells and cell layers within the cornea, like an "in vivo" microscopy.We describe and discuss the findings of OCT and HRT examination.
HRT reveals deposits in corneal stroma ressembling lattice corneal dystrophy. These deposits could correspond to amyloid deposits. We analysed also all the layers of the cornea.
Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs including cornea.
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