Painful Diplopia as an Initial Presentation of VEXAS Syndrome

ABSTRACT

This is a case report describing an unusual presentation of acute painful diplopia that led to the diagnosis of VEXAS syndrome. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset monogenic auto-inflammatory disease due to somatic UBA1 gene mutation in haematopoietic progenitor cells. Our patient was a 67-year-old diabetic male who presented with painful eye movements associated with diplopia, left periorbital pain and swelling. Imaging revealed an inflammatory process involving multiple intra- and extra-orbital structures. The patient improved initially with a short course of intravenous steroids. However, two months later he re-presented with right facial swelling. Bone marrow biopsy demonstrated UBA1 gene mutation supporting the diagnosis of VEXAS syndrome. This case highlights a unique ocular presentation of VEXAS.

KEYWORDS:

• VEXAS
• diplopia
• autoinflammatory
• orbital myositis
• ophthalmoplegia

Acknowledgments

We would like to express our sincere gratitude to Dr. Ruth Batty, neuroradiologist, for her valuable contribution to editing the MRI images.

Disclosure statement

No potential conflict of interest was reported by the authors.

Authors’ statement

An informed written consent has been obtained from the patient to publish the details and images of his case.

Additional information

Funding

The authors reported there is no funding associated with the work featured in this article.