Anterior Segment-Optical Coherence Tomography features in Blau syndrome.

Abstract

Blau syndrome (BS) is a rare granulomatous auto-inflammatory disease, characterized by the classic clinical triad of joints, skin and ocular involvements. Ocular manifestation usually consists in a bilateral insidious chronic anterior uveitis with a potential evolution to panuveitis. We describe the case of two siblings, an 8-years old female and a 5-years old male, with a diagnosis of BS, evaluated by Anterior Segment-Optical Coherence Tomography (AS-OCT). In the female patient, slit-lamp examination revealed bilateral anterior granulomatous uveitis and inflammatory sequelae. AS-OCT revealed high intensity reflective layers in the anterior cornea, hyperreflective dots both in the aqueous humor and in the posterior corneal surface. In the male, no signs of inflammation were detected both on slit-lamp examination and AS-OCT scans. AS-OCT is a valuable, non-invasive tool that could improve the diagnosis of ocular involvement, better characterize and follow-up corneal alterations and anterior segment features in pediatric patients with BS.

• Authors: Marina Concilio, Gilda Cennamo, Mariapaola Giordano, Federica Fossataro, Luca D'Andrea, Nicola Ciampa, Roberta Naddei, Francesca Orlando, Fausto Tranfa, Maria Alessio
• Journal: Photodiagnosis and photodynamic therapy (Photodiagnosis Photodyn Ther) Vol. 34 Pg. 102278 (Jun 2021) ISSN: 1873-1597 [Electronic] Netherlands
• PMID: 33813016 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2021 Elsevier B.V. All rights reserved.

Chemical References

• Photosensitizing Agents

Topics

• Anterior Eye Segment (diagnostic imaging)
• Arthritis
• Child
• Child, Preschool
• Female
• Humans
• Male
• Photochemotherapy (methods)
• Photosensitizing Agents
• Sarcoidosis
• Synovitis
• Tomography, Optical Coherence
• Uveitis (diagnostic imaging)