Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome

Clinical Ophthalmology

Volumn 7, Issue , 2013, Pages 1581-1585

  Kawai, Mariko ^a   Yoshikawa, Tadanobu ^a   Nishikomori, Ryuta ^b   Heike, Toshio ^b   Takahashi, Kanji ^a  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

Author keywords

Chronic infantile cutaneous and articular syndrome; Cryopyrin associated periodic syndrome; Interleukin l ; Leucine rich repeat containing protein 3; Optic disc swelling

Indexed keywords

AZATHIOPRINE; C REACTIVE PROTEIN; CYCLOPHOSPHAMIDE; EYE DROPS; LEFLUNOMIDE; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; SALAZOSULFAPYRIDINE; STEROID; TACROLIMUS;

ADULT; ARTHRALGIA; ARTICLE; CASE REPORT; CINCA SYNDROME; CLINICAL FEATURE; ERYTHROCYTE SEDIMENTATION RATE; EYE PHOTOGRAPHY; EYE REDNESS; EYE SWELLING; FEVER; GENE MUTATION; GENETIC SCREENING; HEADACHE; HETEROZYGOSITY; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; INTRAOCULAR PRESSURE; IRIDOCYCLITIS; LEUKOCYTE COUNT; LYMPHOCYTE COUNT; MALE; OPHTHALMOSCOPY; OPTIC DISK; OPTIC DISK SWELLING; OPTICAL COHERENCE TOMOGRAPHY; PROTEIN BLOOD LEVEL; RECURRENT DISEASE; REFRACTION ERROR; RETINA DISEASE; RETINA EXUDATE; RETINAL VASCULAR SHEATHING; URTICARIA; VISUAL ACUITY;

EID: 84881251913     PISSN: 11775467     EISSN: 11775483     Source Type: Journal    
DOI: 10.2147/OPTH.S49281     Document Type: Article

References (13)

1. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621-668.
2. Hoffman HM, Wanderer AA. Inflammasome and IL-1β-mediated disorders. Curr Allergy Asthma Rep. 2010;10:229-235.
3. Yu JR, Leslie KS. Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response. Curr Allergy Asthma Rep. 2011;11:12-20.
4. Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) Ocular Study Group. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome. Arch Ophthalmol. 2000;118:1386-1392.
5. Goldbach RM. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13:123-131.
6. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615-620.
7. Goldbach RM, Dailey NJ, Canna SW, etal. Neonatal onset multisystem inflammatory disease responsive to interleukin-1 beta inhibition. N Engl J Med. 2006;355:581-592.
8. Neven B, Callebaut I, Prieur AM, etal. Molecular basis of the spectral expression of CIAS1mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood. 2004;103:2809-2815.
9. Dodé C, Le Dû N, Cuisset L, etal. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70:1498-1506.
10. Terrada C, Neven B, Boddaert N, etal. Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra. J Ophthalmic Inflamm Infect. 2011;1:133-136.
11. Hoffman HM, Rosengren S, Boyle DL, etal. Prevention of cold-associated acute inflammatory in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364:1779-1785.
12. Hoffman HM, Throne ML, Amar NJ, etal. Efficacy and safety of rilonacept(interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes. Results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58:2443-2452.
13. The Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360: 2416-2425.