Prognostic Information for Known Genetic Carriers of RB1 Pathogenic Variants (Germline and Mosaic)

To compare the number of tumors per eye for mosaic carriers RB1 pathogenic variants with full germline and conversion from unilateral to bilateral disease. Retrospective cohort study comparing patients retinoblastoma different genetic subtypes: high penetrance (HP), low (LP), mosaicism. Data were analyzed between 1992 2018 at Retinoblastoma Unit, Royal London Hospital, London, United Kingdom. All familial had a parent known variant even if did not manifest Number in children who developed that eye. Other outcomes included total patient, age diagnosis, laterality presentation later, sex, stage according International Intraocular Classification. A 111 included: 64 germline, (53 HP 11 LP) 47 patients. Twelve (23%) unilateral, 8 12 (67%) their previously unaffected 34 (72%) only 2 (6%) Age diagnosis was higher (median, 22 months) than (median 7) (P < 0.00002). The fewer alleles 1.0; range, 1–6) compared 3.0; 1–8) 0.0003). 3 (4 eyes) mosaicism more levels Children have those high-penetrant are likely remain unilateral. level has an impact on tumors.