Tsimpida, M; Dharmaraj, S; Luthert, PJ; Reddy, MA; Sagoo, MS; (2019) Retinal Neuronal Ectopia: a new entity in the differential diagnosis of retinoblastoma. Retinal Cases & Brief Reports 10.1097/ICB.0000000000000950. (In press).

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Abstract

BACKGROUND: To present a rare retinal disorder that should be considered in the differential diagnosis of retinoblastoma. METHODS: A 2-year-old boy presented with left ocular discomfort, leukocoria, and a left divergent squint. Examination of the left eye revealed abnormalities in the anterior segment, and fundoscopy showed an irregular white calcified mass with fibrosis and traction toward the lens. As the ocular discomfort worsened, enucleation of the left eye was performed. RESULTS: Histopathological and immunohistochemical assessment of the enucleated eye established the diagnosis of retinal neuronal ectopia. CONCLUSION: We believe that this case is unique in the human retina and highlights the need for specialist differential diagnosis. Although rare, retinal neuronal ectopia should be considered in the differential diagnosis of retinoblastoma.

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