VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe autoinflammatory disease that mostly affects men over 50 years of age and can lead to significant morbidity and mortality. Inflammation of the lung tissues, blood vessels, cartilage, and skin with neutrophil infiltration are among the clinical features of this syndrome. How the disease affects other organs like the eyes is unknown. In this study, the authors described a case of VEXAS syndrome with treatment- resistant inflammation and symptoms involving the eyes including swelling and inflammation of the episclera, a thin layer of tissue covering the white part of the eye.

What is exciting about this article?

VEXAS syndrome causes blood problems, fever, and inflammation, leading to organ damage. This study adds to a series of clinical reports to define the complete spectrum of disease features related to VEXAS.

Grant support


Research Areas:

Autoimmunity Clinical Research Computational Biology Epidemiology Genetics and Genomics Immunology


Episcleritis and periorbital edema secondary to VEXAS syndrome.

Fanlo P, Román MLS, Fonollosa A, Ilarramendi J, Heras H, Grayson P
Arch Soc Esp Oftalmol (Engl Ed).
2023 Oct;
doi: 10.1016/j.oftale.2023.07.004
PMID: 37595794

Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.