Definition: Malignant ocular neoplasm of childhood, with onset usually before the third year of life, composed of primitive retinal small round cells with deeply staining nuclei and elongated cells forming rosettes; the risk of developing osteosarcoma increases later in life. In familial cases, the disease is usually bilateral with multiple lesions within an eye, but in sporadic cases rarely so. Autosomal dominant inheritance caused by mutation in the tumor-suppressor retinoblastoma gene (RB) on chromosome 13q.
[retino- + G. blastos, germ, + -oma, tumor]
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