This is a genotype with recommended actions if clinically confirmed. In brief:
- Retinoblastoma (Rb) is a is life- and vision-threatening childhood cancer, due to certain mutations in the RB1 gene.
- Specialized treatment centers with multidisciplinary teams of specialists including an RB specialist, ophthalmology, pediatric oncology, anesthetist, ocularist, pathology, radiation oncology, and social worker/psychosocial support are critical for the care of children and families with Rb.
- Surveillance beginning at birth by way of dedicated ophthalmic screening is recommended for all children at risk for retinoblastoma.
- Radiation should be avoided due to the increased risk of primary secondary tumors.
The full ClinGen Actionability report about Retinoblastoma (Rb) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.