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[VEXAS- NEWLY REPORTED SYNDROME WITH OCULAR MANIFESTATIONS: CASE REPORT].
Muhammad Abumanhal1, Ran Ben Cnaan1, Igal Leibovitch1
1Oculoplastic Institute, Division of Ophthalmology, Tel Aviv Sourasky- Ichilov Medical Center.
Harefuah
|March 26, 2025
Summary
VEXAS syndrome, a somatic mutation in the UBA1 gene, causes autoinflammatory disease and hematologic issues. This case highlights ocular involvement as a key diagnostic indicator for VEXAS syndrome.
Area of Science:
- Genetics and Immunology
- Rheumatology
- Ophthalmology
Background:
- VEXAS syndrome is an adult-onset autoinflammatory disease linked to somatic UBA1 gene mutations.
- It primarily affects males and is associated with myelodysplastic syndrome and systemic inflammation.
- Key features include inflammation of lungs, recurrent infections, fever, and skin/sinus/ear issues.
Observation:
- This article details a VEXAS syndrome case diagnosed after significant ocular involvement.
- The patient's presentation underscores the importance of ophthalmological examination in VEXAS diagnosis.
Findings:
- Ocular manifestations are a critical, though often overlooked, feature of VEXAS syndrome.
- Reviewing literature reveals diverse ocular presentations associated with this condition.
Implications:
- Early diagnosis of VEXAS syndrome can be improved by recognizing ocular signs.
- Understanding the spectrum of VEXAS manifestations aids in patient management and treatment strategies.
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