Background: Incorrect diagnosis of the uveitic masquerade syndromes (UMS) may have severe consequences. In this study, the frequency, clinical manifestations, and informative diagnostic tests for UMS are described.
Design: Retrospective observational case series.
Participants: Forty patients with UMS were identified in a cohort of 828 consecutive patients with uveitis. The mean follow-up was 4.5 years.
Methods: A review of clinical, laboratory, photographic, and angiographic records was performed.
Main outcome measures: Clinical features, associated systemic diseases, diagnostic procedures and their role in the diagnostic process, and systemic and visual outcomes.
Results: Nineteen patients had intraocular malignancy (48% of all with UMS; 2.3% of all with uveitis), mainly intraocular lymphoma (n = 13) and leukemia (n = 3). The ophthalmologist was the first to recognize malignant disease in 11 of 19 patients (58%). Of 21 patients with nonmalignant UMS, 10 had an ocular vascular disease and 5 a hereditary ocular disorder. The patients with malignant UMS were older than those with nonmalignant UMS (average age, 50 vs 44 years, P: < 0.05). During follow-up, 9 of 19 patients with malignant UMS died. The most informative diagnostic procedure for malignant UMS was intraocular fluid analysis; for nonmalignant UMS, fluorescein angiography. The cytologic analysis of intraocular fluids yielded the best results for diagnosing intraocular malignancies (7 of 11 patients, 64%); the association of negative cytologic results with the recent administration of systemic corticosteroids was noted. Immunophenotyping of the aqueous confirmed the diagnosis of hematologic malignancy for 3 of 5 patients examined. Panuveitis was the most frequent manifestation of malignant UMS. Intraocular lymphomas presented with isolated vitreitis (n = 6), chorioretinal lesions (n = 5) and iris infiltration (n = 2). Clinical presentation of nonmalignant UMS was diverse but consisted mainly of abnormalities of the retinal vasculature.
Conclusions: UMS was diagnosed in 5% of the patients with uveitis at a tertiary center. Despite the variety of underlying disorders and different clinical presentations, a high frequency of malignant and vascular diseases was found. Awareness of the clinical manifestations of UMS and application of the correct diagnostic procedures should promote timely diagnosis and treatment, which are essential not only for visual acuity but also for the life of the patient.