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J. L. Maki, B. P. Marr, D. H. Abramson; Diagnosis of Retinoblastoma: How Good Are Referring Physicians in 2008?. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1682.
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To evaluate the current accuracy of referring diagnosis for retinoblastoma to a tertiary cancer referral center.
A retrospective chart review of 111 patients referred with a new diagnosis of retinoblastoma during a 4-year period from January 1, 2004 to October 21, 2008 was performed. Gender, family history of retinoblastoma, initial symptoms, laterality, age at presentation and at initial symptoms, type of referring physician (e.g. pediatrician, general ophthalmologist, retinal ophthalmologist) and their suspected diagnoses were recorded and compared with final diagnoses. All patients referred with known, treated retinoblastoma or treated simulating lesions were excluded.
Of 111 patients, 62% were correctly diagnosed with retinoblastoma and 38% did not have retinoblastoma. Persistent fetal vasculature (PFV) and Coats’ disease were the most common simulating lesions accounting for 31% and 29% of the simulating lesions respectively. Other lesions were infrequent but included astrocytic hamartoma, a retinal pigment epithelial tumor and a primary ocular teratoma.
Despite the introduction of many ancillary techniques to aid in the diagnosis of retinoblastoma it continues to present a diagnostic dilemma and there has been little improvement in the rate of misdiagnosis in the United States in the last 20 years.
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