Soliman Sameh E, Martínez Silvia, De Nicola M Laura, Kiehl Rasmus, Krema Hatem
Department of Ophthalmology, University of Alexandria , Alexandria, Egypt.
Ocular Oncology Service, Princess Margaret Cancer Centre , Toronto, ON, Canada.
Ophthalmic Genet. 2020 Aug;41(4):350-353. doi: 10.1080/13816810.2020.1765398. Epub 2020 Jun 16.
Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified RB1 pathogenic variant that confirmed retinoblastoma diagnosis in this discordant clinicopathologic presentation of the tumor.
