Retinoblastoma

This article is about the disease. For the protein, see Retinoblastoma protein.

Retinoblastoma
A pathology specimen of a retinoblastoma tumor from an enucleated eye of a 3-year-old female
SpecialtyNeuro-oncology
SymptomsLeukocoria seen in patient's pupil in photos
Poor vision
One or both eyes turning inward or outward
Eye pain[1]
Usual onsetUnder 3 years old[1]
TreatmentSurgery (including eye removal in advanced cases)
Chemotherapy (after surgery in cases of metastasis)
Focal therapy[1]
Frequency~250–300 children diagnosed annually (United States)[1]

Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,[2] the light-detecting tissue of the eye.[3] It is the most common primary malignant intraocular cancer in children, especially those under 3 years old.[4][5]

Though most children in high income countries survive this cancer,[2] they may lose their vision in the affected eye(s)[6] or need to have the eye removed.[2]

Almost half of children with retinoblastoma have a hereditary genetic defect associated with it. In other cases, retinoblastoma is caused by a congenital mutation in the chromosome 13 gene 13q14 (retinoblastoma protein).[7]

  1. ^ a b c d "Retinoblastoma". St. Jude Children's Research Hospital. Retrieved March 9, 2022.
  2. ^ a b c Dimaras H, Corson TW, Cobrinik D, White A, Zhao J, Munier FL, et al. (August 2015). "Retinoblastoma". Nature Reviews. Disease Primers. 1: 15021. doi:10.1038/nrdp.2015.21. PMC 5744255. PMID 27189421.
  3. ^ Cite error: The named reference mayo was invoked but never defined (see the help page).
  4. ^ Rao R, Honavar SG (December 2017). "Retinoblastoma". Indian Journal of Pediatrics. 84 (12): 937–944. doi:10.1007/s12098-017-2395-0. PMID 28620731.
  5. ^ American Cancer Society (2003). "Chapter 85. Neoplasms of the Eye". Cancer Medicine. Hamilton, Ontario: BC Decker Inc. ISBN 978-1-55009-213-4.
  6. ^ Warda O, Naeem Z, Roelofs KA, Sagoo MS, Reddy MA (April 2023). "Retinoblastoma and vision". Eye. 37 (5): 797–808. doi:10.1038/s41433-021-01845-y. PMC 10050411. PMID 34987197. S2CID 245672434.
  7. ^ Ryan SJ, Schachat AP, Wilkinson CP, Hinton DR, Sadda SR, Wiedemann P (2012-11-01). Retina. Elsevier Health Sciences. p. 2105. ISBN 978-1455737802.