Home » Patient Stories » Role of Early Screening and Genetic Testing for Retinoblastoma:
“Retinoblastoma is heritable eye cancer with a strong genetic predisposition, and it is possible for more than one sibling to get affected by the cancer in the same family. Genetic testing and counseling play an extremely important role in the management of this cancer by identifying the newborn babies at risk who needs screening for this tumor. Earlier the cancer is detected better is the cure rate and the possibility of saving not only life but eye and vision. Along with the screening of the children in the community for early detection of retinoblastoma, a targeted screening of at-risk babies based on genetic predisposition is an important strategy for diagnosing this tumor early and improving outcome.
Baby Ameere Hamza 1 month old child was diagnosed as a group A retinoblastoma, the earliest stage of retinoblastoma based on this targeted screening strategy of at-risk children. He is the third sibling born in a family with a history two elder siblings affected with retinoblastoma. Late detection made one of his elder siblings lose her one eye and the other sibling lost vision in one eye due to this tumor. Based on the results of the genetic testing, Ameera was found to be at high risk of having retinoblastoma like his other siblings and an immediate screening of his eye soon after birth did diagnose him to be having extremely early-stage retinoblastoma in both his eyes. Fortunately, the tumor was small enough not to affect his vision or threaten his eye. Treatment was initiated promptly and we hope he will be cured of the disease soon and retain full vision in his eyes. Identifying and early screening of at-risk children is an important strategy for early retinoblastoma detection and CBP support made it possible to diagnose Ameera at a very early stage, giving hope for the family to have him cured of cancer and save his vision and eye.