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 Takahashi<sup>1

1</sup>Department of Ophthalmology, Kansai Medical University, Osaka, ²Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Abstract: 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