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Published on: March 25, 2011
Ocular Features of VEXAS Syndrome: A Systematic Review and Meta-analysis.
Clare Quigley1, James Pietris1, Terence Ang1
1From the Department of Ophthalmology, Royal Adelaide Hospital (C.Q., J.P., T.A., D.S.), Adelaide, South Australia, Australia.
American Journal of Ophthalmology
|March 29, 2025
Summary
Ocular inflammation, including orbital inflammation and uveitis, is common in Vacuoles, E1-ligase, X-linked Auto-inflammatory, Somatic (VEXAS) syndrome. Prompt ophthalmic review is crucial for VEXAS patients experiencing eye symptoms to prevent sight-threatening complications.
Area of Science:
- Ophthalmology
- Rheumatology
- Genetics
Background:
- Vacuoles, E1-ligase, X-linked Auto-inflammatory, Somatic (VEXAS) syndrome is a recently identified autoinflammatory disorder.
- Ocular manifestations are increasingly recognized but not fully characterized.
- Understanding these features is vital for timely diagnosis and management.
Purpose of the Study:
- To systematically identify and analyze the spectrum of ocular features in patients with VEXAS syndrome.
- To correlate ocular findings with genetic mutations and systemic manifestations.
- To assess the impact of ocular involvement on visual acuity.
Main Methods:
- Systematic literature review adhering to PRISMA guidelines.
- Search of PubMed/MEDLINE, Embase, and CENTRAL databases (January 2020 - September 2024).
- Meta-analysis of genotype and ocular feature data; statistical analysis using Kruskal-Wallis and Fisher exact tests.
Main Results:
- Fifty-two articles involving 204 patients (1 female) were analyzed.
- Orbital inflammation (periorbital edema, myositis) and episcleritis/scleritis were most frequent ocular findings.
- Splice site UBA1 mutations were associated with more severe ophthalmic features compared to methionine 41 missense mutations.
Conclusions:
- VEXAS syndrome presents with diverse ophthalmic manifestations, notably orbital inflammation and uveitis.
- Ophthalmic evaluation is recommended for VEXAS patients with ocular symptoms.
- Early detection and management can mitigate the risk of vision loss.
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