Retinoblastoma

Common Name(s)

Retinoblastoma

Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. Other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is caused by mutations in the RB1 gene. In about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. In the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. Retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. Hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). Retinoblastoma that occurs in only one eye is usually not inherited. Retinoblastoma that occurs in both eyes is thought to be inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinoblastoma" for support, advocacy or research.

Childhood Eye Cancer Trust

The Childhood Eye Cancer Trust (CHECT) is dedicated to providing support to families affected by Retinoblastoma (Rb), funding research and raising awareness.

Last Updated: 1 Oct 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinoblastoma" for support, advocacy or research.

Childhood Eye Cancer Trust

The Childhood Eye Cancer Trust (CHECT) is dedicated to providing support to families affected by Retinoblastoma (Rb), funding research and raising awareness.

http://www.chect.org.uk

Last Updated: 1 Oct 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Retinoblastoma" returned 1448 free, full-text research articles on human participants. First 3 results:

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
 

Author(s): Philippine Eloy, Catherine Dehainault, Meriem Sefta, Isabelle Aerts, François Doz, Nathalie Cassoux, Livia Lumbroso le Rouic, Dominique Stoppa-Lyonnet, François Radvanyi, Gaël A Millot, Marion Gauthier-Villars, Claude Houdayer

Journal:

 

Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral ...

Last Updated: 1 Mar 2016

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Orbital retinoblastoma: Prosthetic frontier.
 

Author(s): Himanshi Aggarwal, Pradeep Kumar

Journal: J Cancer Res Ther. ;11(4):1047.

 

Last Updated: 17 Feb 2016

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Trends of reported cases of retinoblastoma post-enucleation seeking prosthetic rehabilitation: Few annotations.
 

Author(s): H Aggarwal, P Kumar

Journal: Indian J Cancer. ;52(2):180-1.

 

Last Updated: 8 Feb 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Retinoblastoma" returned 66 free, full-text review articles on human participants. First 3 results:

Treatment of Retinoblastoma: The Role of External Beam Radiotherapy.
 

Author(s): Joo-Young Kim, Younghee Park

Journal: Yonsei Med. J.. 2015 Nov;56(6):1478-91.

 

The risk of radiotherapy-related secondary cancers in children with constitutional retinoblastoma 1 (RB1) mutations has led to reduced use of external beam radiotherapy (EBRT) for RB. Presently, tumor reduction with chemotherapy with or without focal surgery (chemosurgery) is most ...

Last Updated: 8 Oct 2015

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Human papillomavirus carcinogenesis: an identity crisis in the retinoblastoma tumor suppressor pathway.
 

Author(s): Karl Munger, D Leanne Jones

Journal: J. Virol.. 2015 May;89(9):4708-11.

 

Viruses are obligate intracellular parasites and need to reprogram host cells to establish long-term persistent infection and/or to produce viral progeny. Cellular changes initiated by the virus trigger cellular defense responses to cripple viral replication, and viruses have evolved ...

Last Updated: 4 Apr 2015

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Update on intra-arterial chemotherapy for retinoblastoma.
 

Author(s): Mario Zanaty, Guilherme Barros, Nohra Chalouhi, Robert M Starke, Philip Manasseh, Stavropoula I Tjoumakaris, Carol L Shields, David Hasan, Ketan Bulsara, Robert H Rosenwasser, Pascal Jabbour

Journal: ScientificWorldJournal. 2014 ;2014():869604.

 

The tools for managing retinoblastoma have been increasing in the past decade. While globe-salvage still relies heavily on intravenous chemotherapy, tumors in advanced stage that failed chemotherapy are now referred for intra-arterial chemotherapy (IAC) to avoid enucleation. However, ...

Last Updated: 18 Nov 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Alternating Systemic Chemotherapy and Intra-Arterial Melphalan Chemotherapy in Children With Intra-Ocular Retinoblastoma
 

Status: Recruiting

Condition Summary: Advanced Intra-Ocular Retinoblastoma; Retinoblastoma

 

Last Updated: 9 Jan 2015

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Cancer Biology of Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 30 Jun 2015

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Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 29 Mar 2016

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