title: Description of a new family with  cryopyrin-associated periodic syndrome: risk of  visual loss in patients bearing the R260W mutation.
abstract: OBJECTIVE
  The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation.
  
  
  METHODS
  Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was performed by means of direct sequencing.
  
  
  RESULTS
  The proband was admitted during an episode of unilateral anterior uveitis. She had a history of recurrent red eye and had been suffering episodes of skin rash and arthralgia induced by cold since childhood. At examination, she showed a reticulated corneal mid-stroma. Her mother and her younger sister also suffered from relapsing episodes of skin rash and fever triggered by cold as well as flares of red eye. They had developed premature hearing loss. In both cases, opacities in the corneal mid-stroma were evidenced with a slit lamp. The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. Treatment with anakinra resulted in complete remission of flares.
  
  
  CONCLUSIONS
  In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.
authors: Nicolás
authors: N
authors: Alejandre
authors: Ana
authors: A
authors: Ruiz-Palacios
authors: Angel M
authors: AM
authors: García-Aparicio
authors: Fiona
authors: F
authors: Blanco-Kelly
authors: Sandra
authors: S
authors: Bermúdez
authors: Guillermo
authors: G
authors: Fernández-Sanz
authors: Fredeswinda I
authors: FI
authors: Romero
authors: Juan I
authors: JI
authors: Aróstegui
authors: Carmen
authors: C
authors: Ayuso
authors: Ignacio
authors: I
authors: Jiménez-Alfaro
authors: Gabriel
authors: G
authors: Herrero-Beaumont
authors: Olga
authors: O
authors: Sánchez-Pernaute
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics*; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D007634:Keratitis / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D016896:Treatment Outcome; D014606:Uveitis, Anterior / Q000235:genetics; D014786:Vision Disorders / Q000235:genetics*; D055815:Young Adult
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human