retinoblastoma_EY - Learning Issue: Retinoblastoma Name:...

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Learning Issue: Retinoblastoma Name: Erica Young Definition Primary malignant neoplasm of the retina that arises from immature retinal cells. Highly malignant congenital tumor of the retina, but rarely diagnosed at birth. Median age at diagnosis is 1 year in bilateral cases or 2 years in unilateral cases May be inherited (positive family history in 7% of cases) Both eyes are eventually affected in about one-third of cases Presents as loss of red eye reflex in two-thirds of cases Elevated retinal mass seen through ophthalmoscope Take home message: most common intraocular malignancy of childhood, may be either 1.inherited as an autosomal dominant trait or 2. may be sporadic. Can be both unilateral or bilateral Etiology Inherited retinoblastoma accounts for 6% of patients, but 15% of unilateral cases are carriers for the retinoblastoma gene. The remaining 94% of cases are sporadic. Sporadic>Inherited Inherited: The disease is inherited through an autosomal recessive tumor suppressor gene. Because the gene is a tumor suppressor gene,
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This note was uploaded on 02/18/2012 for the course PAS 600 - 601 taught by Professor Garrubba during the Fall '10 term at Chatham University.

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retinoblastoma_EY - Learning Issue: Retinoblastoma Name:...

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