Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
In 2009, a 35-year-old Japanese male visited the dermatology clinic of our hospital presenting with urticarial-like rash from infancy, periodic fever, and arthralgia. He also presented with deafness, repeated eye redness, ocular pain, headache, and general fatigue from the time he was a child. He had a previous history of meningitis at the age of 20 years. At first, Behçet’s disease was suspected based on his symptoms. Consequently, he was seen for diagnosis in the ophthalmology clinic at our hospital in September 2009. His best-corrected visual acuity was 1.0 OD and 0.9 OS and his manifest refraction was uncorrected OU. Intraocular pressure was 9 mmHg OD and 7 mmHg OS. Slit-lamp examination showed conjunctival and episcleral injection in both eyes, clear and smooth corneas, and infiltration of inflammatory cells without posterior synechia in the anterior chamber. Gonioscopy did not reveal hypopyon, nodules, or peripheral anterior synechia. Ophthalmoscopy and fundus photography examination revealed obvious bilateral optic disc swelling and retinal vascular sheathing around the optic discs, with absence of dilated capillaries on the optic discs, vitreous opacifications, and retinal exudates (). Critical flicker frequency was normal (43.8 Hz OD and 47.2 Hz OS). Goldmann perimetry showed only enlarged blind spots in both eyes. The patient had no ocular findings of Behçet’s disease. Hematologic examination showed increased inflammatory markers, a white blood cell count of 18,700 cells/μL (neutrophil count 75.5%, lymphocyte count 20.5%), C-reactive protein of 2.94 mg/dL, and an erythrocyte sedimentation rate of 44 mm. Magnetic resonance imaging showed no intracranial space-occupying lesion.\nThe anterior uveitis was treated with steroid and nonsteroidal anti-inflammatory eye drops. The patient was also treated at the department of rheumatology and clinical immunology with immunosuppressive agents (methotrexate, tacrolimus, azathioprine, cyclophosphamide) and antirheumatic agents (salazosulfapyridine, leflunomide) to reverse systemic symptoms. However, conjunctival and episcleral injection and systemic symptoms played a limited role in these treatments. Three years later, his best-corrected visual acuity was 1.2 OD and 1.2 OS. His conjunctival and episcleral injection remained unchanged (). The optic discs became white in color () and fluorescein angiography demonstrated strong staining and weak late phase leakage from the optic disc (). Spectral domain optical coherence tomography (Spectralis, Heidelberg Engineering, Heidelberg, Germany) revealed obvious optic disc swelling ().\nIn 2012, his mother was genetically diagnosed with CAPS. Therefore, the patient underwent genetic testing for the diagnosis of CAPS at Kyoto University Graduate School of Medicine after informed consent was obtained, according to the tenets of the Declaration of Helsinki. Genetic tests detected heterozygous mutations in c.907G>A [p.Asp303Asn (D303N)], a previously reported mutation responsible for CAPS. Thus, he received a definitive diagnosis of CAPS.