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

نویسندگان

  • Mariko Kawai
  • Tadanobu Yoshikawa
  • Ryuta Nishikomori
  • Toshio Heike
  • Kanji Takahashi
چکیده

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.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra

An 8-year-old patient with genetically confirmed chronic infantile neurological cutaneous and articular syndrome was treated with interleukin-1 receptor antagonist, anakinra. She initially presented with recurrent episodes of fever, rash, chronic fatigue, frequent headaches, ocular involvement (corneal infiltrate and papillary edema), and permanent increased biologic inflammatory markers. Follo...

متن کامل

A case of bilateral uveitis and optic disc swelling with Chiari I malformation.

We report a case of bilateral uveitis and optic disc swelling with Chiari I malformation. A 16-year-old girl was admitted to our clinic due to conjunctival hyperaemia and blurred vision in her right eye. Ophthalmologic and systemic examinations were performed. Visual acuity was 0.7 (OD) and 1.0 (OS). Bilateral optic disc swelling was observed. Fluorescein angiography demonstrated bilateral reti...

متن کامل

گزارش یک مورد کاهش بینایی شدید یکطرفه و کاپینگ دو طرفه عصب اپتیک ثانویه به تومورمتاستاتیک مغز

Purpose: To report a case of unilateral severe visual loss and bilateral optic disc cupping secondary to brain metastasis of bronchogenic carcinoma Patient and findings: A 48 year-old woman presented with severe visual loss of left eye without redness or pain or any systemic findings .Clinical findings included decreased visual acuity of left eye to 4 m CF and (+3) positive Marcus-Gunn refle...

متن کامل

CIAS1-associated autoinflammatory syndrome first diagnosed at age 48 years: a case report

Cryopyrin-associated periodic syndromes are a group of autoinflammatory syndromes caused by mutations of the CIAS1gene (currently named NLRP3), and are characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. Often patients present in early childhood, but the great diversity of manifestations and the difficulties in genetic analyses make the d...

متن کامل

Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.

Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1β. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2013