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 1258 free, full-text research articles on human participants. First 3 results:

Failure of globe conservation in a case of adult onset retinoblastoma.
 

Author(s): Vikas Khetan, Appukuttan Bindu, Pradnya Kamat, S Krishna Kumar

Journal: Middle East Afr J Ophthalmol. ;21(4):358-60.

 

Adult onset retinoblastoma is a rare intraocular malignancy. The majority of the cases are treated with enucleation, due to late presentation and advanced-stage tumors. Here we report a case of a 30-year-old female who presented with an intraocular mass with exudative retinal detachment ...

Last Updated: 5 Nov 2014

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Retinoblastoma referral pattern in Kenya.
 

Author(s): Joseph M Nyamori, Kahaki Kimani, Margaret W Njuguna, Helen Dimaras

Journal: Middle East Afr J Ophthalmol. ;21(4):321-7.

 

Kenya is a large country with a widely dispersed population. As retinoblastoma requires specialized treatment, we determined the referral pattern for patients with retinoblastoma in Kenya to facilitate the formulation of a national policy.

Last Updated: 5 Nov 2014

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Classification and management of seeds in retinoblastoma. Ellsworth Lecture Ghent August 24th 2013.
 

Author(s): Francis L Munier

Journal: Ophthalmic Genet.. 2014 Dec;35(4):193-207.

 

Retinoblastoma has the unique capacity to accelerate its own intra-ocular propagation by adopting semi-solid or even liquid growth properties through seeding. Until recently, the presence of any degree of seeding was mostly incompatible with successful conservative management, due ...

Last Updated: 14 Nov 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 61 free, full-text review articles on human participants. First 3 results:

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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MicroRNAs horizon in retinoblastoma.
 

Author(s): Mojgan Mirakholi, Touraj Mahmoudi, Mansour Heidari

Journal: Acta Med Iran. 2013 ;51(12):823-9.

 

In the retinoblastoma research, it is of great interest to identify molecular markers associated with the genetics of tumorigenesis. microRNAs (miRNAs) are small non-coding RNA molecules that play a regulatory role in many crucial cellular pathways such as differentiation, cell cycle ...

Last Updated: 20 Jan 2014

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The genomic landscape of retinoblastoma: a review.
 

Author(s): Brigitte L Thériault, Helen Dimaras, Brenda L Gallie, Timothy W Corson

Journal: Clin. Experiment. Ophthalmol.. ;42(1):33-52.

 

Retinoblastoma is a paediatric ocular tumour that continues to reveal much about the genetic basis of cancer development. Study of genomic aberrations in retinoblastoma tumours has exposed important mechanisms of cancer development and identified oncogenes and tumour suppressors that ...

Last Updated: 17 Jan 2014

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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: 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: 22 Apr 2015

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