RB1 pathogenic variant in a child: Implications for child and family

RB1 pathogenic variant in a child: Implications for child and family

Additional considerations may apply if a pathogenic RB1 variant cannot be identified in a child with hereditary retinoblastoma. If a child has mosaicism of any percentage, the parents do not require testing, as mosaicism is a de novo event. Refer to UpToDate for definitions and details of the evaluation and management of retinoblastoma.

MRI: magnetic resonance imaging; CT: computed tomography.
* Caveats with RB1 genetic testing:

Make sure the parents are tested for the child's specific variant.
Some testing may not detect a variant if there is <5% mosaicism.
Review the results of genetic testing with a genetics professional and ocular oncologist to ensure adequate testing has been performed.

¶ Use MRI (rather than CT or radiographs) for diagnostic imaging; use chemotherapy rather than radiation therapy for cancer treatment when possible.

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RB1 pathogenic variant in a child: Implications for child and family