Noncancerous Monogenic Mimics of Noninfectious Posterior Uveitis.

Abstract

The eye can only respond in certain patterned ways to any insult. Because of this, it is important to have a sufficiently broad differential diagnosis that encompasses all possibilities that appear to have a similar phenotype. A consensus review. A guide to determine when to consider gentic diseases when a patient is referred as a uveitis mimic. It is critical to appreciate that mimics of noninfectious posterior uveitis (NIPU) are not merely academic distinctions but carry real clinical consequences. Misdiagnosing an inherited retinal disease (IRD) as NIPU can lead to prolonged exposure to systemic corticosteroids or immunosuppressive therapies without benefit, potentially causing avoidable adverse effects. Conversely, failing to recognize a treatable inflammatory cause can lead to avoidable vision loss.