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

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 1428 free, full-text research articles on human participants. First 3 results:

"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma".
 

Author(s): Guadalupe Quiñonez-Silva, Mercedes Dávalos-Salas, Félix Recillas-Targa, Patricia Ostrosky-Wegman, Diego Arenas Aranda, Luis Benítez-Bribiesca

Journal:

 

Retinoblastoma is a malignant tumor of the retina in children <5 years of age and occurs after two mutations in the RB1 gene. The first mutation (M1) is germinal and confers predisposition to the hereditary type, which is transmitted as an autosomal dominant highly penetrant trait, ...

Last Updated: 12 Jan 2016

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A case-control study of sporadic retinoblastoma in relation to maternal health conditions and reproductive factors: a report from the Children's Oncology group.
 

Author(s): Julia E Heck, Negar Omidakhsh, Saeedeh Azary, Beate Ritz, Ondine S von Ehrenstein, Greta R Bunin, Arupa Ganguly

Journal:

 

The early age at retinoblastoma occurrence, the most common eye malignancy in childhood, suggests that perinatal factors may contribute to its etiology.

Last Updated: 20 Oct 2015

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Trilateral retinoblastoma with unilateral eye involvement.
 

Author(s): Gabriel Costa de Andrade, Neviçolino Pereira de Carvalho Pinto, Márcia Motono, Martha Motono Chojniak, Rubens Chojniak, Stephania Martins Bezerra

Journal: Rev Assoc Med Bras. 2015 Aug;61(4):308-10.

 

Retinoblastomas (RB) are the main forms of intraocular tumor in childhood, with a worldwide incidence of 1 case per 15,000 to 20,000 live births. Trilateral RB (RBT) is a rare combination of unilateral or bilateral RB with a midline intracranial neoplasm of neuroblastic origin, usually ...

Last Updated: 15 Oct 2015

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

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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Retinoblastoma tumor suppressor pathway in breast cancer: prognosis, precision medicine, and therapeutic interventions.
 

Author(s): Agnieszka K Witkiewicz, Erik S Knudsen

Journal:

 

A series of recent studies have demonstrated that the retinoblastoma tumor suppressor (RB) pathway plays a critical role in multiple clinically relevant aspects of breast cancer biology, spanning early stage lesions to targeted treatment of metastatic disease. In ductal carcinoma ...

Last Updated: 18 Sep 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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