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

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-lβ. A 35-year-old male presented with recurrent symptoms of urticarial-like rash...

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Autores principales: Kawai, Mariko, Yoshikawa, Tadanobu, Nishikomori, Ryuta, Heike, Toshio, Takahashi, Kanji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743521/
https://www.ncbi.nlm.nih.gov/pubmed/23966762
http://dx.doi.org/10.2147/OPTH.S49281
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author Kawai, Mariko
Yoshikawa, Tadanobu
Nishikomori, Ryuta
Heike, Toshio
Takahashi, Kanji
author_facet Kawai, Mariko
Yoshikawa, Tadanobu
Nishikomori, Ryuta
Heike, Toshio
Takahashi, Kanji
author_sort Kawai, Mariko
collection PubMed
description 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-lβ. 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.
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spelling pubmed-37435212013-08-21 Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome Kawai, Mariko Yoshikawa, Tadanobu Nishikomori, Ryuta Heike, Toshio Takahashi, Kanji Clin Ophthalmol Case Report 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-lβ. 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. Dove Medical Press 2013 2013-08-06 /pmc/articles/PMC3743521/ /pubmed/23966762 http://dx.doi.org/10.2147/OPTH.S49281 Text en © 2013 Kawai et al. This work is published by Dove Medical Press Ltd, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License. The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Ltd, provided the work is properly attributed.
spellingShingle Case Report
Kawai, Mariko
Yoshikawa, Tadanobu
Nishikomori, Ryuta
Heike, Toshio
Takahashi, Kanji
Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743521/
https://www.ncbi.nlm.nih.gov/pubmed/23966762
http://dx.doi.org/10.2147/OPTH.S49281
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