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Titel	Papilloedema as a Feature of Muckle-Wells Syndrome
Abstract Nr.	137

Doel	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.
Methodes	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.
Resultaten	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.
Conclusie	Papilloedema is an ocular feature of MWS, as are conjunctivitis and a peculiar pupil shape. Papilloedema may be subclinical and thus can be a chance finding.

Auteur 1

Naam	DE CRAENE
Initialen	S
Instituut	Dept Ophthalmology, Ghent Univ Hosp
Stad	Ghent

Auteur 2

Naam	JANSSENS
Initialen	S
Instituut	Ctr Med Genet, Ghent Univ Hosp
Stad	Ghent

Auteur 3

Naam	MERCKAERT
Initialen	I
Instituut	Dept Ophthalmology, H Hart ZH Menen
Stad	Menen

Auteur 4

Naam	POPPE
Initialen	B
Instituut	Ctr Med Genet, Ghent Univ Hosp
Stad	Ghent

Auteur 5

Naam	LEROY
Initialen	BP
Instituut	Dept Ophthalmology & Ctr Med Genet, Ghent Univ Hosp
Stad	Ghent