Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult

ABSTRACT

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.

KEYWORDS:

• Adult
• retinoblastoma
• retinoma
• discordance
• rb1
• molecular diagnosis

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.