Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

Katie Myint; Namritha Patrao; Oana Vonica; Kaveh Vahdani

doi:10.1186/s12348-023-00362-1

Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

J Ophthalmic Inflamm Infect. 2023 Sep 7;13(1):39. doi: 10.1186/s12348-023-00362-1.

Authors

Katie Myint¹, Namritha Patrao², Oana Vonica², Kaveh Vahdani³

Affiliations

¹ Adnexal Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK. katie.myint@nhs.net.
² Royal Eye Unit, Kingston Hospital NHS Foundation Trust, Surrey, UK.
³ Adnexal Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.

Abstract

Purpose: To describe a case of recurrent orbital inflammation and superior orbital fissure syndrome associated with VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome.

Case presentation: VEXAS syndrome is a recently identified multi-system inflammatory disease of late adult onset. The authors describe the case of a 76-year-old man who presented with recurrent episodes of orbital inflammation, with superior orbital fissure syndrome, dacryoadenitis and orbital myositis. He had a constellation of systemic disorders including recurrent chest infections, congestive cardiac failure, pulmonary emboli and skin rashes. The underlying diagnosis of VEXAS syndrome was confirmed by genetic testing, which revealed the UBA1 mutation.

Conclusion: VEXAS syndrome should be considered in the differential diagnosis of orbital inflammatory disease associated with multi-system inflammatory disorders.