A Short Note On The Biology Of Retinoblastoma

1454 Words Nov 10th, 2014 6 Pages
The Biology of Retinoblastoma

Abstract
Retinoblastoma is a cancer that develops in the retina of the eye, predominantly in young children. It occurs due to the mutation in the Rb gene, leading to the production of a dysfunctional Rb protein that cannot bind to a transcriptional factor in order to prevent further progression in the cell cycle. Consequently, uncontrolled proliferation takes place which results in a cancer developing. Two forms of the disease exist; familial and sporadic. In the familial form, the individual inherits one mutated copy of the gene and the other copy mutates in early childhood leading to presentation of the disease. In the sporadic form, both copies of the gene are normal at birth, however, chance mutations occur in both copies of the gene in a retinal cell causing the tumour to arise. Retinoblastoma is usually detected by abnormalities of the eye such as leucakoria and deterioration of vision. Treatments involve enucleation, chemotherapy and radiation therapy.

Introduction
Retinoblastoma is a malignant cancer of the eye manifesting primarily in children, with more than 90% of the cases present in those under the age of five (1). The cancer affects the immature retinoblast cells of the retina, the light sensitive membrane that connects the optic nerve with the brain, creating visual images. During gestation and early life, retinoblasts proliferate to produce cells to form the retina. As children age, differentiation takes place and the cells…

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