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Neal Palejwala, Gagan Sawhney, Matthew Raeker, Steven Yeh, Christina J Flaxel; Value of Diagnostic Work-up in the Evaluation of White Dot Syndromes. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5293.
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White dot syndromes are a heterogenous group of disorders affecting the outer retina, retinal pigment epithelium, and choroid. They have many distinctive and shared clinical features and can vary significantly in visual prognosis. Their pathogenesis is not completely known but many infectious and non-infectious etiologies have been proposed. There can be significant variability and overlap in the clinical presentation. Also, masquerade syndromes such as syphilis, sarcoidosis, leukemia/lymphoma can have similar manifestations. Because of the non-specificity of the clinical exam, often times clinicians perform multiple diagnostic tests to confirm and rule-out other diagnoses. In this study, we attempt to evaluate the yield of diagnostics in the work-up of white dot syndromes.
This study is a retrospective review of consecutive patients identified with a clinical diagnosis of a white dot syndrome (Acute Posterior Multifocal Placoid Pigment Epitheliopathy, Serpigenous Choroiditis, Multiple Evanescent White Dot Syndrome, Birdshot Choroidopathy, Multifocal choroiditis, Punctate Inner Choroidopathy) at 2 major university centers: Emory Eye Center and Casey Eye Institute. Charts were reviewed for diagnostic testing performed and diagnostic yield was calculated.
Eighty-five patients were identified. Sixty-eight percent were female. The mean age was 44.9 years. A total of 404 laboratory and radiographic tests were performed of which 11.1% had a positive diagnostic yield. An average of 4.5 tests were performed per patient. The most common tests ordered were a complete blood count and metabolic panel. The highest diagnostic yield was found with HLA-A29 DNA typing to confirm the diagnosis of birdshot choriodopathy (yield- 91%). RPR, FTA-ABS, PPD, and ACE were ordered in 52, 45, 44, and 41 patients, respectively. Of these, only 1 patient had a reactive PPD.
Laboratory and radiographic testing for white dot syndromes were of low diagnostic yield with the exception of HLA-A29 testing for birdshot choroidopathy. Although diagnoses such as syphilis, tuberculosis, and sarcoidosis should be considered in these cases, diagnostic testing should be ordered when clinical suspicion is high. Consideration should be given for limited workups for these patients.
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