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Tang, P. Retinoblastoma. Encyclopedia. Available online: https://encyclopedia.pub/entry/5985 (accessed on 20 September 2026).
Tang P. Retinoblastoma. Encyclopedia. Available at: https://encyclopedia.pub/entry/5985. Accessed September 20, 2026.
Tang, Peter. "Retinoblastoma" Encyclopedia, https://encyclopedia.pub/entry/5985 (accessed September 20, 2026).
Tang, P. (2021, January 04). Retinoblastoma. In Encyclopedia. https://encyclopedia.pub/entry/5985
Tang, Peter. "Retinoblastoma." Encyclopedia. Web. 04 January, 2021.
Retinoblastoma
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/retinoblastoma

Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.

genetic conditions

References

  1. Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphicphenotype and neurological impairment in 22 retinoblastoma patients withconstitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82. Citation on PubMed
  2. Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007Jul;46(7):617-34. Review. Citation on PubMed
  3. De Falco G, Giordano A. pRb2/p130: a new candidate for retinoblastoma tumorformation. Oncogene. 2006 Aug 28;25(38):5333-40. Review. Citation on PubMed
  4. Ewens KG, Bhatti TR, Moran KA, Richards-Yutz J, Shields CL, Eagle RC, Ganguly A. Phosphorylation of pRb: mechanism for RB pathway inactivation inMYCN-amplified retinoblastoma. Cancer Med. 2017 Mar;6(3):619-630. doi:10.1002/cam4.1010. Epub 2017 Feb 17. Citation on PubMed or Free article on PubMed Central
  5. Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [updated 2018 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1452/ Citation on PubMed
  6. Madhavan J, Ganesh A, Kumaramanickavel G. Retinoblastoma: from disease todiscovery. Ophthalmic Res. 2008;40(5):221-6. doi: 10.1159/000128578. Epub 2008Apr 29. Review. Citation on PubMed
  7. Mallipatna A, Marino M, Singh AD. Genetics of Retinoblastoma. Asia Pac JOphthalmol (Phila). 2016 Jul-Aug;5(4):260-4. doi: 10.1097/APO.0000000000000219.Review. Citation on PubMed
  8. Poulaki V, Mukai S. Retinoblastoma: genetics and pathology. Int OphthalmolClin. 2009 Winter;49(1):155-64. doi: 10.1097/IIO.0b013e3181924bc2. Review. Citation on PubMed
  9. Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Thériault BL, Prigoda-LeeNL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z,Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL,Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Characterisation of retinoblastomaswithout RB1 mutations: genomic, gene expression, and clinical studies. LancetOncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar13. Citation on PubMed
  10. Schefler AC, Abramson DH. Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol. 2008 Nov;19(6):526-34. doi: 10.1097/ICU.0b013e328312975b. Review. Citation on PubMed
  11. Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9. Citation on PubMed or Free article on PubMed Central
  12. Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HS, Héon E, Gallie BL.Prenatal versus Postnatal Screening for Familial Retinoblastoma. Ophthalmology.2016 Dec;123(12):2610-2617. doi: 10.1016/j.ophtha.2016.08.027. Epub 2016 Oct 3. Citation on PubMed
  13. Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Genetics and Molecular Diagnostics in Retinoblastoma--An Update. Asia Pac J Ophthalmol (Phila). 2017Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. Review. Citation on PubMed
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Subjects: Genetics & Heredity
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Update Date: 04 Jan 2021
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