Retinoblastoma Bilateral

Retinoblastoma (RB) is a primary eye cancer that forms in the back of the eye of infants and toddlers. Traditionally, RB is diagnosed without a biopsy; tumor can only be studied once an eye has been surgically removed. Given this limitation, we use aqueous humor (AH), the clear fluid in the front of the eye to detect specific markers, or information, that comes from the tumor itself.

The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.