Disease

Hereditary retinoblastoma1, 2

Gene

RB1

Inheritance AD
Current Treatments enucleation; cryotherapy; laser, systemic, or local ocular chemotherapy including intra-arterial chemotherapy, combined with or followed by laser or cryotherapy; radiation therapy using episcleral plaques; external beam radiotherapy
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test ophthalmologic examination
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC001
Disease Frequency (per 100,000) 5.8351
Genes Included in Disease Frequency RB
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Retinoblastoma&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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