Dr.Usha R
RB;most common pediatric intraocular cancer.Most of the patients present at advanced stages (Group D/E)Genetic testing and counseling will help in better management of siblings and off springs with RB.Family1-Mother and child were affected with Bilateral RB and wanted to know the risk of RB for next sibling.Family2-Twins seen at orbit clinic and treated for RB;TwinA;Bilateral RB{Group B(RE)D(LE)}TwinB;Suspicious lesion{Group A(RE)}
Methods;Sanger Sequencing;Multiplex Ligation dependent probe amplification.Results:A novel intronic splice variant identified in mother and child and higher risk of RB predicted in sibling.Confirmed after birth, followed by successful treatment which helped salvage both life and vision In twin family, deletion of 3 exons of RB1 in Twin A but no deletion in parents and Twin B; DNA fingerprinting confirmed the twins were non-identical and hence no follow-up requiredfor Twin B
Conclusion:Genetics helped save child’s life&vision & confirm sibling’s no risk.