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.

http://www.chect.org.uk

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

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 1256 free, full-text research articles on human participants. First 3 results:

Pancreatic cancer-associated retinoblastoma 1 dysfunction enables TGF-β to promote proliferation.
 

Author(s): A Jesse Gore, Samantha L Deitz, Lakshmi Reddy Palam, Kelly E Craven, Murray Korc

Journal: J. Clin. Invest.. 2014 Jan;124(1):338-52.

 

Pancreatic ductal adenocarcinoma (PDAC) is often associated with overexpression of TGF-β. Given its tumor suppressor functions, it is unclear whether TGF-β is a valid therapeutic target for PDAC. Here, we found that proliferating pancreatic cancer cells (PCCs) from human PDAC patients ...

Last Updated: 2 Jan 2014

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Retinoblastoma protein prevents enteric nervous system defects and intestinal pseudo-obstruction.
 

Author(s): Ming Fu, Solange Landreville, Olga A Agapova, Luke A Wiley, Michael Shoykhet, J William Harbour, Robert O Heuckeroth

Journal: J. Clin. Invest.. 2013 Dec;123(12):5152-64.

 

The retinoblastoma 1 (RB1) tumor suppressor is a critical regulator of cell cycle progression and development. To investigate the role of RB1 in neural crest-derived melanocytes, we bred mice with a floxed Rb1 allele with mice expressing Cre from the tyrosinase (Tyr) promoter. TyrCre+;Rb1fl/fl ...

Last Updated: 2 Dec 2013

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Orbital retinoblastoma: case report.
 

Author(s): Eduardo Darahem Mabtum, Maria Teresa Brizzi Chizzotti Bonanomi, Patricia Picciarelli de Lima, Maria Tereza Assis de Almeida

Journal: Arq Bras Oftalmol. ;76(4):247-9.

 

We describe the case of a 9-month old boy with unilateral retinoblastoma and bulftalmo. Primary enucleation was the treatment of choice due to the lack of visual prognosis. The histology of the enucleated eye showed massive choroidal invasion by the tumor and the optic nerve free ...

Last Updated: 24 Sep 2013

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

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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RNA polymerase III repression by the retinoblastoma tumor suppressor protein.
 

Author(s): Alison Gjidoda, R William Henry

Journal: Biochim. Biophys. Acta. ;1829(3-4):385-92.

 

The retinoblastoma (RB) tumor suppressor protein regulates multiple pathways that influence cell growth, and as a key regulatory node, its function is inactivated in most cancer cells. In addition to its canonical roles in cell cycle control, RB functions as a global repressor of ...

Last Updated: 7 Mar 2013

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Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy.
 

Author(s): C L Shields, E M Fulco, J D Arias, C Alarcon, M Pellegrini, P Rishi, S Kaliki, C G Bianciotto, J A Shields

Journal: Eye (Lond). 2013 Feb;27(2):253-64.

 

In this report, we explore retinoblastoma diagnostic accuracy and review chemotherapy alternatives for retinoblastoma using intravenous, intra-arterial, periocular, and intravitreal routes. A review of 2775 patients referred for management of retinoblastoma, disclosed 78% with confirmed ...

Last Updated: 14 Feb 2013

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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: Not yet recruiting

Condition Summary: Advanced Intra-Ocular Retinoblastoma; Retinoblastoma

 

Last Updated: 15 Apr 2014

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Cancer Biology of Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 8 Oct 2013

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Intravitreal Injections of Melphalan for Retinoblastoma
 

Status: Not yet recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 18 Mar 2012

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