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

Mariko Kawai,1 Tadanobu Yoshikawa,1 Ryuta Nishikomori,2 Toshio Heike,2 Kanji Takahashi11Department of Ophthalmology, Kansai Medical University, Osaka, 2Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, JapanAbstract: Cryopyrin-associated periodic syndrome (CAPS) is a gr...

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Autores principales:	Kawai M, Yoshikawa T, Nishikomori R, Heike T, Takahashi K
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2013
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/47e19f275f904630a5cccdba2f0ee60e
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spelling	oai:doaj.org-article:47e19f275f904630a5cccdba2f0ee60e2021-12-02T04:44:04ZObvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome1177-54671177-5483https://doaj.org/article/47e19f275f904630a5cccdba2f0ee60e2013-08-01T00:00:00Zhttp://www.dovepress.com/obvious-optic-disc-swelling-in-a-patient-with-cryopyrin-associated-per-a13921https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Mariko Kawai,1 Tadanobu Yoshikawa,1 Ryuta Nishikomori,2 Toshio Heike,2 Kanji Takahashi11Department of Ophthalmology, Kansai Medical University, Osaka, 2Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, JapanAbstract: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lß. A 35-year-old male presented with recurrent symptoms of urticarial-like rash, periodic fever, arthralgia, headache, and eye redness. His best-corrected visual acuity was 1.0 OD and 0.9 OS. Slit-lamp examination showed conjunctival and episcleral injection in both eyes. Ophthalmoscopy revealed obvious bilateral optic disc swelling and retinal vascular sheathing around the optic discs. Spectral domain optical coherence tomography also showed obvious optic disc swelling. Steroid and nonsteroidal anti-inflammatory drugs did not improve these symptoms. Genetic testing detected a heterozygous mutation of c.907G>A. Thus, the patient was genetically confirmed with CAPS. Visual acuity did not decrease for 3 years, although the optic discs became white in color. CAPS should therefore be distinguished from other disorders when examining optic disc swelling and/or uveitis patients with urticarial-like rash and periodic fever.Keywords: interleukin-lß, chronic infantile cutaneous and articular syndrome, cryopyrin-associated periodic syndrome, leucine-rich repeat-containing protein 3, optic disc swellingKawai MYoshikawa TNishikomori RHeike TTakahashi KDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2013, Iss default, Pp 1581-1585 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Kawai M Yoshikawa T Nishikomori R Heike T Takahashi K Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
description	Mariko Kawai,1 Tadanobu Yoshikawa,1 Ryuta Nishikomori,2 Toshio Heike,2 Kanji Takahashi11Department of Ophthalmology, Kansai Medical University, Osaka, 2Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, JapanAbstract: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lß. A 35-year-old male presented with recurrent symptoms of urticarial-like rash, periodic fever, arthralgia, headache, and eye redness. His best-corrected visual acuity was 1.0 OD and 0.9 OS. Slit-lamp examination showed conjunctival and episcleral injection in both eyes. Ophthalmoscopy revealed obvious bilateral optic disc swelling and retinal vascular sheathing around the optic discs. Spectral domain optical coherence tomography also showed obvious optic disc swelling. Steroid and nonsteroidal anti-inflammatory drugs did not improve these symptoms. Genetic testing detected a heterozygous mutation of c.907G>A. Thus, the patient was genetically confirmed with CAPS. Visual acuity did not decrease for 3 years, although the optic discs became white in color. CAPS should therefore be distinguished from other disorders when examining optic disc swelling and/or uveitis patients with urticarial-like rash and periodic fever.Keywords: interleukin-lß, chronic infantile cutaneous and articular syndrome, cryopyrin-associated periodic syndrome, leucine-rich repeat-containing protein 3, optic disc swelling
format	article
author	Kawai M Yoshikawa T Nishikomori R Heike T Takahashi K
author_facet	Kawai M Yoshikawa T Nishikomori R Heike T Takahashi K
author_sort	Kawai M
title	Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title_short	Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title_full	Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title_fullStr	Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title_full_unstemmed	Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title_sort	obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
publisher	Dove Medical Press
publishDate	2013
url	https://doaj.org/article/47e19f275f904630a5cccdba2f0ee60e
work_keys_str_mv	AT kawaim obviousopticdiscswellinginapatientwithcryopyrinassociatedperiodicsyndrome AT yoshikawat obviousopticdiscswellinginapatientwithcryopyrinassociatedperiodicsyndrome AT nishikomorir obviousopticdiscswellinginapatientwithcryopyrinassociatedperiodicsyndrome AT heiket obviousopticdiscswellinginapatientwithcryopyrinassociatedperiodicsyndrome AT takahashik obviousopticdiscswellinginapatientwithcryopyrinassociatedperiodicsyndrome
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Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome

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