Abstract: Retinoblastoma (RB) is the most common  primary intraocular malignant tumor in infants. Its occurrence and development are closely related to the inactivation of tumor suppressor geneRB1 gene. Deeply study on RB1 gene detection is helpful to select the optimal strategies for genetic testing and genetic counseling  in clinical work. RB seriously endangers the life and visual function of children, so it is urgent to improve the coverage of genetic testing and genetic counseling for RB patients in China. RB1 gene  detection is helpful to achieve the individualized comprehensive treatment  and genetic guidance for RB patients. It is neccessary to promote its application in clinical diagnosis and treatment for RB.