Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8792532 | Journal of American Association for Pediatric Ophthalmology and Strabismus | 2016 | 12 Pages |
Abstract
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 18Â months.
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Authors
Diego MD, Alan MD, Mario MD, Federica MD, Verónica MD, Gabriela MD, Felipe BSc, Carol L. MD,