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 1458 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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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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Diffuse chorioretinal atrophy after a single standard low- dose intravitreal melphalan injection in a child with retinoblastoma: a case report.
 

Author(s): An- Ning Chao, Ling-Yuh Kao, Laura Liu, Nan-Kai Wang

Journal:

 

Controlling retinoblastoma with seeding is challenging despite advances in treatment modalities. Intravitreal melphalan is an alternative to external beam radiation or enucleation for recurrent or refractory vitreous seeds. Significant ocular side effects following intravitreal melphalan ...

Last Updated: 15 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 66 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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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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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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