Am J Ophthalmol 2026 Apr:284:171-180. doi: 10.1016/j.ajo.2026.01.003.
Summary
Misdiagnosis of IRD as noninfectious posterior uveitis. Multimodal imaging and targeted genetic testing are helpful. Consensus review.
Abstract
Purpose: 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.
Design: A consensus review.
Method: A guide to determine when to consider gentic diseases when a patient is referred as a uveitis mimic.
Results: It is critical to appreciate that mimics of noninfectious posterior uveitis (NIPU) are not merely academic distinctions but carry real clinical consequences.
Conclusions: 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.
