Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old

We describe bilateral retinoblastoma in an 8-year-old girl presenting with macular tumor in one eye and a small peripheral tumor in the other but no detected RB1 gene mutation. Despite chemotherapy, multiple focal laser, cryotherapy, and periocular chemotherapy, tumor activity persisted and enucleat...

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Veröffentlicht in:	Journal of AAPOS 2014-10, Vol.18 (5), p.500-502
Hauptverfasser:	Astudillo, Paulita Pamela P., MD, Chan, Helen S.L., MB, BS, FRCPC, Héon, Elise, MD, FRCSC, Gallie, Brenda L., MD, FRCSC
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Eye Enucleation Female Germ-Line Mutation - genetics Humans Mosaicism Ophthalmology Polymerase Chain Reaction Retinal Neoplasms - diagnosis Retinal Neoplasms - genetics Retinal Neoplasms - surgery Retinoblastoma - diagnosis Retinoblastoma - genetics Retinoblastoma - surgery Retinoblastoma Protein - genetics Tomography, Optical Coherence
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