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B. P. Leroy, S. De Craene, B. Poppe, P. Kestelyn; Papilloedema as a Feature of Muckle-Wells Syndrome. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3075.
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To describe the ophthalmological features of Muckle-Wells syndrome (MWS), a rare AD auto-inflammatory disease, characterized by a classic triad of rashes with fever and arthralgia, deafness and amyloid nephropathy.
A 46-year old man with urticaria-like skin eruptions, periodic fever, arthralgias and sensorineural hearing loss was referred for ophthalmological evaluation. MWS was suspected. He underwent a full ophthalmological and systemic work-up.Data from the patient’s mother were obtained retrospectively.
Slit-lamp examination showed bilateral conjunctivitis and a peculiar pupil shape. Fundoscopy revealed bilateral long standing papilloedema. BCVAs were 10/10 and on Goldmann visual fields only an enlarged blind spot was seen in BE. pVEPs were normal. On pERG P50 was low normal and N95 was more markedly reduced.An MRI scan of the brain showed atrophy and slight meningeal thickening.A clinical diagnosis of MWS was confirmed by molecular analysis (c.1040C>T mutation in NLRP3 on chromosome 1q44).The patient’s mother had been known with similar problems, including urticaria, arthralgias and hearing loss. She had suffered from a few episodes of papilloedema, attributed to arteritis temporalis-related AION. She had died of renal failure due to amyloidosis at the age of 80.
Optic disc oedema is an ocular feature of MWS, as are conjunctivitis and a peculiar pupil shape. This shows that MWS is a member of a continuous spectrum of phenotypes of cryopyrinopathies, AIDs caused by NALP3 mutations. This includes the mild form, Familial Cold Auto-inflammatory Syndrome with only conjunctivitis, and a severe form, Chronic Infantile Neurologic Cutaneous and Articular syndrome, with typical central nervous system involvement with papilloedema and possible visual loss.
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