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Revising the diagnosis of idiopathic uveitis by peripheral blood transcriptomics

American Journal of Ophthalmology Sep 17, 2020

Rosenbaum JT, Harrington CA, Searles RP, et al. - Researchers conducted this case-control study to test the assumption that idiopathic uveitis can be categorized into subtypes based on gene expression from the blood. RNA-Seq was applied to peripheral blood from patients with uveitis correlated with one of four systemic diseases, namely axial spondyloarthritis (n = 17), sarcoidosis (n = 13), inflammatory bowel disease (n = 12), tubulo-interstitial nephritis with uveitis (n = 10), or idiopathic uveitis (n = 38) as well as 18 healthy controls evaluated predominantly at Oregon Health & Science University. Gene expression profiling achieved an overall accuracy of 85% for uveitis associated with a diagnosable systemic disease. Peripheral blood gene expression profiling is a potential adjunct in the precise differential diagnosis of the cause of uveitis. Validating these findings and characterizing the gene expression profile from additional discrete diagnoses may improve the importance of those observations.

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