DR. PUJA MAITRA

Dr. PARAG K. SHAH, Dr. PREMA K.V. SUBRAMANIAM, DR. ABHISHEK DAS

Abstract

Retinoblastoma(RB) is caused by the biallelic inactivation of RB1gene. In this study, mutational analysis was conducted on 411 peripheral blood samples collected on a single day during Retinoblastoma awareness week, from 49 bilateral and 64 unilateral unrelated RB patients and family members, by Sanger sequencing and Multiplex Ligation-dependent Probe Amplification(MLPA). Germline RB1 mutations were identified in 96% and 22% for bilateral and unilateral RB respectively. 11 novel mutations were noted. Mean age of RB diagnosis was significantly different between patients the 2 groups (p≤ 0.0001). In germline cases, follow-up with anaesthesia (EUA) was done till 7 years of age; unilateral cases were observed for tumors in the other eye and subsequent siblings were screened and treated early. Some family members harbored retinocytoma. Sporadic cases post enucleation were followed up under EUA till 44 months age. Our study accentuates the importance of genetics in retinoblastoma management

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