TY - JOUR A1 - Abraham, Aloysius A1 - Thirumalairaj, Kannan A1 - Gaikwad, Namrata A1 - Muthukkaruppan, Veerappan A1 - Reddy, Alla A1 - Thangaraj, Kumarasamy A1 - Kim, Usha A1 - Vanniarajan, Ayyasamy T1 - Retinoblastoma discordance in families with twins Y1 - 2019/3/1 JF - Indian Journal of Ophthalmology JO - Indian J Ophthalmol SP - 436 EP - 439 VL - 67 IS - 3 UR - https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2019;volume=67;issue=3;spage=436;epage=439;aulast=Abraham DO - 10.4103/ijo.IJO_1245_18 N2 - Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma. ER -