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Published on: January 21, 2018
Noncancerous Monogenic Mimics of Noninfectious Posterior Uveitis
Mohammad Anas1, Andrew C Browning2, Hwei Wuen Chan3
1From the Wills Eye Hospital and MidAtlantic Retina (M.A., R.A.P., J.S.P.), Jefferson University, Philadelphia, Pennsylvania, USA; UCL Institute of Ophthalmology (M.A., O.A.M.), London, UK.
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.
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