Germline pathogenic variants linked with more severe retinoblastoma

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The risk of developing retinoblastoma (RB) is associated with the germline pathogenic variant, according to a study published in JAMA Ophthalmology.

In this single-center, retrospective cohort study, the genotype and phenotype of 1404 patients with RB (866 unilateral, 538 bilateral) were recorded.

Germline pathogenic variants estimated to abrogate RB protein expression were associated with an earlier mean (SD) age at diagnosis, more frequent bilateral involvement, and more advanced International Intraocular Retinoblastoma Classification group compared with germline pathogenic variants estimated to retain RB protein expression. Nongermline carriers were more likely to be female and males were more likely to have bilateral RB.


Salviat F, Gauthier-Villars M, Carton M, et al. Association between genotype and phenotype in consecutive unrelated individuals with retinoblastoma. JAMA Ophthalmol. Published online June 18, 2020. doi:10.1001/jamaophthalmol.2020.2100

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