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Article

Ocular and orbital manifestations in VEXAS syndrome.

Eye (London, England) - 1 Jun 2024

Abumanhal Muhammad, Leibovitch Igal, Zisapel Michael, Eviatar Tali, Edel Yonatan, Ben Cnaan Ran

Abstract excerpt

BACKGROUND: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case...

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Identifiers

PMID: 38548942
DOI: 10.1038/s41433-024-03014-3
PMCID: PMC11156927

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