Definition
Retinoblastoma is a malignant neuroblastic tumor derived from the embryonic retinal cell.
Etiology
Retinoblastoma develops following mutations in both alleles of a cell’s RB1 gene. The RB1 gene is located on the long arm of chromosome 13 (13q14) and produces a nucleoprotein that regulates the transition of a cell from G1 to the S phase of the cell cycle. Loss of both RB1 alleles allows uncontrolled cellular proliferation. In approximately 40 % of patients with retinoblastoma, loss of the first RB1 allele is inherited from either an affected parent (10 %) or from a spontaneous mutation in one of the gametes (90 %), and the loss of the second is spontaneous. In the remaining 60 % of patients with retinoblastoma, loss of both RB1 alleles in the same cell is spontaneous (Murphree et al. 2006; Gass 1997; Shields 1999; Conway et al. 2005).
Clinical Presentation
Retinoblastoma commonly presents as leukocoria (white pupil) or strabismus in a young child. Other less common signs...
References
Conway RM, Aaberg TM Jr, Hubbard GB, Obrien JM (2005) Retinoblastoma. In: Harnett ME, Trese M, Capone A Jr, Keats BJB, Steidl SM (eds) Pediatric retina. Lippincott Williams and Wilkins, Philadelphia, pp 205–224
Gass JD (1997) Stereoscopic atlas of macular diseases diagnosis and treatment, 4th edn. Mosby, St. Louis, pp 868–873
Murphree AL, Samuel MA, Harbour JW, Mansfield NC (2006) Retinoblastoma. In: Ryan SJ (ed) Retina, 4th edn. Elsevier, Philadelphia, pp 557–601
Shields JA (1999) Retinoblastoma. In: Guyer DR, Yanuzzi LA, Chang S, Shields JA, Green WR (eds) Retina-vitreous-macula, 2nd edn. W.B. Saunders Co., Philadelphia, pp 1139–1150
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Schell, J. (2012). Retinoblastoma. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_127-3
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DOI: https://doi.org/10.1007/978-3-642-35951-4_127-3
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