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Chapter 48 – Genetics of hereditary retinoblastoma

Alejandra G de Alba Campomanes,
Joan M O’Brien

Clinical background


Retinoblastoma is a tumor of the developing retina. It is the most common malignant ocular tumor in childhood, affecting approximately 1 in 20 000 live births.[1–3] In the USA retinoblastoma is the 10th most common pediatric cancer,[4] with an incidence of 10.6 per million children under the age of 4, 1.53 per million in children between the ages of 5 and 9 years and only 0.27 per million in children over the age of 10.[5] Worldwide, retinoblastoma is responsible for 1% of childhood cancer deaths and 5% of childhood blindness.[6] No gender or race predilection and no significant environmental risk factors have been identified. However there may be an association between retinoblastoma and low socioeconomic status worldwide.[7]