Salviat F, Gauthier-Villars M, Carton M, et al. - Researchers conducted this single-center, retrospective cohort study to explore the connection between genotype and phenotype in patients with retinoblastoma (RB). The sample consisted of 1,404 patients with RB (734 [52.3%] female; mean [SD] age, 20.2 [21.2] months). Germline pathogenic variants inducing the absence of RB protein were associated with more severe disease compared with germline pathogenic variants maintaining RB protein. Female predominance among nongermline carriers was observed, and males were at greater risk of bilateral RB compared with females. Such findings indicate that the risk of RB is correlated with the germline pathogenic variant and with the maintenance of the RB protein and that there is a sex-linked mechanism for nongermline carriers.