ibling of retinoblatoma patient: are we underetimating their rik?

PURPOE: To decribe the clinical preentation of probable germ-line moaicim in four retinoblatoma kindred. METHOD: Review of 255 retinoblatoma patient and their family record in a Univerity of California, an Francico–Bacom Palmer databae to identify thoe with potential germ-line moaicim. Parent and ibling of retinoblatoma patient were given comprehenive ophthalmologic examination. REULT: Four kindred were identified, wherein retinoblatoma wa diagnoed in two ibling and both parent demontrated no evidence of retinoblatoma or retinocytoma. CONCLUION: Clinical appearance of germ-line moaicim i demontrated in our retinoblatoma patient population. We recommend routine clinical creening of all parent and ibling of retinoblatoma patient to provide more accurate genetic couneling and to allow earlier examination and treatment of children at preymptomatic dieae tage. Germ-line moaicim mut be conidered a a genetic tranmiion pattern in thee patient, and genetic couneling hould pecifically recognize thi poibility. If a parent i germ-line moaic, the poibility of bearing a econd child with retinoblatoma i clearly higher than conventionally believed.