Figure 2. Pedigrees of Families 3 to 9. Seven families with retinomas family members in which RB1 mutations have been identified, the families harbor different level of expressivity but are not low-penetrance ones. Causing mutations are all truncating except the E737D thus truncating mutations are responsible of the majority of retinomas in this study. In Families 6 and 9 novel RB1 mutations segregate, namely the 675X and the A766fsX44 mutation. Solid black symbols represent bilateral retinoblastoma (RB). Half black symbols represent unilateral RB. Solid gray symbols represent bilateral retinoma. Half gray symbols represent unilateral retinoma. Slashed symbols represent deceased individuals, and symbols with black dot represent unaffected mutation carriers.