Rétinoblastome

Retinoblastoma is a rare embryonic tumour in very early childhood. If diagnosed as soon as leucocoria and strabismus (the too frequently neglected first symptoms) appear in patients with a tumour limited to retina, the multidisciplinary team may successfully initiate conservative treatment. In developed countries, retinoblastoma has become a curable disease and in poorer regions, although severe extra-ocular cases remain very frequent, the prognosis has been dramatically improved by combined radiochemotherapeutic strategies. Nevertheless, in these countries, sequelae of previous treatment remain frequent: eye enucleation, radiation-induced facial deformities, uni or bilateral impaired vision, second cancer in hereditary cases. Conversely, as a result of the trend to apply new conservative approaches, the quality of life of cured children should be radically improved, even if treatment complications can occur, as well as genetic predisposition to second tumours in hereditary retinoblastomas. Owing to the currently well established indication of prenatal diagnosis in familial cases, and despite the limitations of genetic analysis, direct or indirect detection of allelic losses can be performed in an increasing number of familial cases, contributing to more suitable genetic information.