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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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 1469 free, full-text research articles on human participants. First 3 results:

Targeting Survivin Enhances Chemosensitivity in Retinoblastoma Cells and Orthotopic Tumors.
 

Author(s): Angela Ferrario, Marian Luna, Natalie Rucker, Sam Wong, Ariel Lederman, Jonathan Kim, Charles Gomer

Journal:

 

Treatments for retinoblastoma (Rb) vary depending on the size and location of the intraocular lesions and include chemotherapy and radiation therapy. We examined whether agents used to treat Rb induce a pro-survival phenotype associated with increased expression of survivin, a member ...

Last Updated: 7 Apr 2016

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Retinoblastoma in a pediatric oncology reference center in Southern Brazil.
 

Author(s): Simone G A Selistre, Marcelo K Maestri, Patricia Santos-Silva, Lavinia Schüler-Faccini, Luis S P Guimarães, Juliana Giacomazzi, Mario C Evangelista Júnior, Patricia Ashton-Prolla

Journal:

 

Retinoblastoma (Rb) is the most common intraocular tumor diagnosed in children in Brazil. However, detailed information is lacking regarding patient clinical demographics. This study aimed to determine the clinical profile of patients with Rb who were treated in a public university ...

Last Updated: 4 Apr 2016

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Sporadic Retinoblastoma and Parental Smoking and Alcohol Consumption before and after Conception: A Report from the Children's Oncology Group.
 

Author(s): Saeedeh Azary, Arupa Ganguly, Greta R Bunin, Christina Lombardi, Andrew S Park, Beate Ritz, Julia E Heck

Journal:

 

Retinoblastoma is the most frequent tumor of the eye in children and very little is known about the etiology of non-familial (sporadic) retinoblastoma. In this study we examined whether parental tobacco smoking or alcohol consumption (pre- or post-conception) contribute to the two ...

Last Updated: 19 Mar 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 68 free, full-text review articles on human participants. First 3 results:

Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing.
 

Author(s): A J García-Chequer, A Méndez-Tenorio, G Olguín-Ruiz, C Sánchez-Vallejo, P Isa, C F Arias, J Torres, A Hernández-Angeles, M A Ramírez-Ortiz, C Lara, M L Cabrera-Muñoz, S Sadowinski-Pine, J C Bravo-Ortiz, G Ramón-García, J Diegopérez-Ramírez, G Ramírez-Reyes, R Casarrubias-Islas, J Ramírez, M A Orjuela, M V Ponce-Castañeda

Journal: Cancer Genet. 2016 Mar;209(3):57-69.

 

Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed ...

Last Updated: 29 Feb 2016

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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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The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis.
 

Author(s): Marcus C de Jong, Wijnanda A Kors, Pim de Graaf, Jonas A Castelijns, Annette C Moll, Tero Kivelä

Journal: Am. J. Ophthalmol.. 2015 Dec;160(6):1116-1126.e5.

 

To estimate the incidence of trilateral retinoblastoma in patients with retinoblastoma.

Last Updated: 17 Nov 2015

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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

Cancer Biology of Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 30 Jun 2015

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Intra-arterial Chemotherapy for Children With Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 1 Oct 2016

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Last Updated: 30 Jun 2015

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