Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma

With the availability of high-sensitivity molecular genetic testing, prenatal diagnosis by amniocentesis, early-term delivery of at-risk neonates, and hand-held optical coherence tomography for detection of subclinical tumors, there is an opportunity to optimize eye and vision salvage and minimize the burden of invasive treatments in hereditary retinoblastoma. Providing this standard of care requires consistent practice patterns and collaboration between diagnostic laboratories and tertiary retinoblastoma centers. We describe two cases that highlight the importance of timely and accurate RB1 genetic testing and identification and clinical evaluation of at-risk family members, to optimize outcomes for individuals with hereditary retinoblastoma.