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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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

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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 1319 free, full-text research articles on human participants. First 3 results:

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.
 

Author(s): Ming-yan He, Yu An, Yi-jin Gao, Xiao-wen Qian, Gang Li, Jiang Qian

Journal:

 

Retinoblastoma (RB) sets the paradigm for hereditary cancer syndromes, for which medical care can change depending on the results of genetic testing. In this study, we screened constitutional mutations in the RB1 gene via a method combining DNA sequencing and multiplex ligation-dependent ...

Last Updated: 5 May 2014

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Understanding the antagonism of retinoblastoma protein dephosphorylation by PNUTS provides insights into the PP1 regulatory code.
 

Author(s): Meng S Choy, Martina Hieke, Ganesan Senthil Kumar, Greyson R Lewis, Kristofer R Gonzalez-DeWhitt, Rene P Kessler, Benjamin J Stein, Manuel Hessenberger, Angus C Nairn, Wolfgang Peti, Rebecca Page

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Mar;111(11):4097-102.

 

The serine/threonine protein phosphatase 1 (PP1) dephosphorylates hundreds of key biological targets by associating with nearly 200 regulatory proteins to form highly specific holoenzymes. However, how these proteins direct PP1 specificity and the ability to predict how these PP1 ...

Last Updated: 7 Apr 2014

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Efficient photodynamic therapy on human retinoblastoma cell lines.
 

Author(s): Jan Walther, Stanislas Schastak, Sladjana Dukic-Stefanovic, Peter Wiedemann, Jochen Neuhaus, Thomas Claudepierre

Journal:

 

Photodynamic therapy (PDT) has shown to be a promising technique to treat various forms of malignant neoplasia. The photodynamic eradication of the tumor cells is achieved by applying a photosensitizer either locally or systemically and following local activation through irradiation ...

Last Updated: 5 Feb 2014

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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 60 free, full-text review articles on human participants. First 3 results:

The American Brachytherapy Society consensus guidelines for plaque brachytherapy of uveal melanoma and retinoblastoma.
 

Author(s): ,

Journal: Brachytherapy. ;13(1):1-14.

 

To present the American Brachytherapy Society (ABS) guidelines for plaque brachytherapy of choroidal melanoma and retinoblastoma.

Last Updated: 20 Jan 2014

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Conservative treatment modalities in retinoblastoma.
 

Author(s): Bhavna Chawla, Amit Jain, Rajvardhan Azad

Journal: Indian J Ophthalmol. 2013 Sep;61(9):479-85.

 

Retinoblastoma is the most common primary intraocular malignancy of childhood. A potentially curable cancer, its treatment has improved significantly over the last few decades. The purpose of this article is to review the literature on various conservative treatment modalities available ...

Last Updated: 9 Oct 2013

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Deciphering the retinoblastoma protein phosphorylation code.
 

Author(s): Seth M Rubin

Journal: Trends Biochem. Sci.. 2013 Jan;38(1):12-9.

 

Multisite phosphorylation modulates the function of regulatory proteins with complex signaling properties and outputs. The retinoblastoma tumor suppressor protein (Rb) is inactivated by cyclin-dependent kinase (Cdk) phosphorylation in normal and cancer cell cycles, so understanding ...

Last Updated: 25 Dec 2012

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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: 24 Apr 2014

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Cancer Biology of Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 8 Oct 2013

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Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 3 Oct 2014

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