Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement

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• 作者：Diego Ossandon ; MD^a ; ^b ; Alan Kastner ; MD^c ; ^{akastner@uc.cl} ; Mario Zanolli ; MD^a ; Federica Solanes ; MD^c ; Veró ; nica Pé ; rez ; MD^d ; Gabriela Repetto ; MD^e ; Felipe Benavides ; BSc^e ; Carol L. Shields ; MD^f
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：20
• 期：6
• 页码：548-550.e1
• 全文大小：489 K
• 卷排序：20

文摘

We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved. The patient has been in remission for 18 months.