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Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma

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Dear Editor, Retinoblastoma is a life-threatening intraocular malignancy that manifests, on average, by 15 months after birth and can lead to blindness, loss of eye, or death [1, 2]. Children… Click to show full abstract

Dear Editor, Retinoblastoma is a life-threatening intraocular malignancy that manifests, on average, by 15 months after birth and can lead to blindness, loss of eye, or death [1, 2]. Children with a family history of retinoblastoma or positive prenatal genetic testing are considered at higher risk of developing retinoblastoma early in life. Further, most prenatal and early postnatal retinoblastomas are identified in the macular region, with anticipation of rapid growth, estimated to be 2-fold increase in volume within 2 weeks [3]. Therefore, earliest detection of tumor in utero by prenatal imaging techniques could improve globe salvage and vision preservation. To date, there have been few reports detailing in utero imaging of retinoblastoma [2, 4, 5]. In one case, bilateral retinoblastoma of a 1.9-mm base and 1.2-mm thickness was detected at 35 weeks gestation using 1.5-Tesla magnetic resonance imaging (MRI) [4]. Two additional cases of large retinoblastoma with face-deforming extraocular extension were coincidentally found on prenatal ultrasonography [5]. In another case, post-natal bilateral retinoblastoma was suspected by prenatal ultrasonography at 37 weeks demonstrating a tiny 2-mm tumor [2]. In one last case, a 3.7-mm prenatal retinoblastoma on screening at 33 weeks gestation was found to enlarge to 6 mm within 1 week (no images available) [4]. Herein, we describe prenatal detection and management of a small macular retinoblastoma. Case description

Keywords: detection; prenatal ultrasonographic; case; management; retinoblastoma; ultrasonographic detection

Journal Title: Graefe's Archive for Clinical and Experimental Ophthalmology
Year Published: 2017

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