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Retinoblastoma information


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, and it is almost exclusively found in young children.[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 retinoblastoma. In other cases, it 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.

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Retinoblastoma

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Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the...

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Retinoblastoma protein

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The retinoblastoma protein (protein name abbreviated Rb; gene name abbreviated Rb, RB or RB1) is a tumor suppressor protein that is dysfunctional in several...

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Trilateral retinoblastoma

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Trilateral retinoblastoma is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma. In most...

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Tumor suppressor gene

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the retinoblastoma tumor suppressor protein. Alfred Knudson, a pediatrician and cancer geneticist, proposed that in order to develop retinoblastoma, two...

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Blastoma

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often called blasts. Examples are nephroblastoma, medulloblastoma, and retinoblastoma. The suffix -blastoma is used to imply a tumor of primitive, incompletely...

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Rb

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concrete structures Retinoblastoma, a childhood cancer of the eyes caused by a mutation in the retinoblastoma protein Retinoblastoma protein, a tumor suppressor...

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Leukocoria

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lentis (PFV/PHPV), retinoblastoma, and retrolental fibroplasia. Because of the potentially life-threatening nature of retinoblastoma, a cancer, that condition...

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Loss of heterozygosity

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classical example of such a loss of protecting genes is hereditary retinoblastoma, in which one parent's contribution of the tumor suppressor Rb1 is flawed...

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Cell cycle

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complex. Cyclin D-CDK4/6 complexes in turn mono-phosphorylates the retinoblastoma susceptibility protein (Rb) to pRb. The un-phosphorylated Rb tumour...

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Brenda Gallie

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Gallie CM OOnt is a Canadian ophthalmologist. She is the Head of the Retinoblastoma Program in the Hospital for Sick Children (Toronto) Department of Ophthalmology...

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Jeff Healey

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firefighter. When he was almost one year old, Healey lost his sight due to retinoblastoma, a rare cancer of the eyes. His eyes had to be surgically removed, and...

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Red reflex

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some of the pathology the red reflex is used to detect. For example, retinoblastoma, a neuroblastic tumor that can cause a dampened or even white reflex...

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Michael Burry

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California. He has Rusyn ancestry. At the age of two he lost his left eye to retinoblastoma and has had a prosthetic eye ever since. As a teenager, he attended...

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Pocket protein family

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consists of three proteins: RB – Retinoblastoma protein p107 – Retinoblastoma-like protein 1 p130 – Retinoblastoma-like protein 2 They play crucial roles...

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Eye neoplasm

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be benign like dermoid cysts, or malignant like rhabdomyosarcoma and retinoblastoma. The most common eyelid tumor is called basal cell carcinoma. This tumor...

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Lung cancer

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risk of various cancers also increase the risk of lung cancer, namely retinoblastoma and Li–Fraumeni syndrome. As with all cancers, lung cancer is triggered...

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Human papillomavirus infection

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the cyclin D/Cdk4 complex, thereby preventing the phosphorylation of retinoblastoma protein (RB), and in turn, halting cell cycle progression by preventing...

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Cell division

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cyclin-cdk complexes. These cyclin-cdk complexes phosphorylate the Retinoblastoma (Rb) protein, a tumor suppressor bound with the E2F family of transcription...

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Adenoviridae

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conditions can transform cells using their early gene products. E1A (binds Retinoblastoma tumor suppressor protein) has been found to immortalize primary cells...

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Derek Fisher

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his then-11-month-old daughter, Tatum. She had been diagnosed with retinoblastoma, a degenerative and rare form of eye cancer, which required an emergency...

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Oncovirus

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also in investigations of cell cycle control mechanisms such as the retinoblastoma protein. The World Health Organization's International Agency for Research...

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List of Call the Midwife episodes

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shortly afterwards, it is discovered that both Lindy's children have retinoblastoma, a cancer of the eye. 111 Episode 6 David O'Neill Katerina Watson...

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Stem cell

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cyclin-dependent kinase inhibitors (Cdkn), pocket proteins of the retinoblastoma (Rb) family, and other accessory factors. Foundational insight into...

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