Clinical Genetics of Retinoblastoma: An Asian Perspective

Retinoblastoma is a cancer of the eye that affects children under the age of 5 years. Mutations in the RB1 gene cause retinoblastoma. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of non-ocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Accurate risk assessment and successful counseling allow families to consider reproductive options. Access to certified laboratories providing high-quality and reliable genetic testing for RB1 is limited in Asian countries.