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 1496 free, full-text research articles on human participants. First 3 results:

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
 

Author(s): Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

Journal:

 

Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine ...

Last Updated: 2 Jun 2017

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Intra-arterial chemotherapy for retinoblastoma: Two-year results from tertiary eye-care center in India.
 

Author(s): Pukhraj Rishi, Tarun Sharma, Minal Sharma, Aditya Maitray, Abhinav Dhami, Vishvesh Aggarwal, Saravanan Munusamy, R Ravikumar, Satheesh Ramamurthy

Journal: Indian J Ophthalmol. 2017 Apr;65(4):311-315.

 

The aim of this study is to describe treatment outcomes and complications of selective intra-arterial chemotherapy (IAC) for intraocular retinoblastoma (RB).

Last Updated: 17 May 2017

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Overexpression of pyruvate dehydrogenase kinase 1 in retinoblastoma: A potential therapeutic opportunity for targeting vitreous seeds and hypoxic regions.
 

Author(s): Swatishree Sradhanjali, Devjyoti Tripathy, Suryasnata Rath, Ruchi Mittal, Mamatha M Reddy

Journal:

 

Pyruvate dehydrogenase kinase 1 (PDK1), a key enzyme implicated in metabolic reprogramming of tumors, is induced in several tumors including glioblastoma, breast cancer and melanoma. However, the role played by PDK1 is not studied in retinoblastoma (RB). In this study, we have evaluated ...

Last Updated: 15 May 2017

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

Intersection of retinoblastoma tumor suppressor function, stem cells, metabolism, and inflammation.
 

Author(s): Shunsuke Kitajima, Chiaki Takahashi

Journal: Cancer Sci.. 2017 Sep;108(9):1726-1731.

 

The Retinoblastoma (RB) tumor suppressor regulates G1 /S transition during cell cycle progression by modulating the activity of E2F transcription factors. The RB pathway plays a central role in the suppression of most cancers, and RB mutation was initially discovered by virtue of ...

Last Updated: 2 Sep 2017

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Orbital retinoblastoma: An update.
 

Author(s): Santosh G Honavar, Fairooz P Manjandavida, Vijay Anand P Reddy

Journal: Indian J Ophthalmol. 2017 Jun;65(6):435-442.

 

Orbital extension is a major cause of death in children with retinoblastoma in the developing countries. Delayed detection and inappropriate management contribute to poor outcome. Conventional treatment including primary orbital exenteration or chemotherapy or radiotherapy alone result ...

Last Updated: 23 Jun 2017

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Retinoblastoma: Update on Current Management.
 

Author(s): Nathalie Cassoux, Livia Lumbroso, Christine Levy-Gabriel, Isabelle Aerts, Fran├žois Doz, Laurence Desjardins

Journal: Asia Pac J Ophthalmol (Phila). ;6(3):290-295.

 

Retinoblastoma is a rare cancer in children, where in less than a century of dire mortality there has been a cure in industrialized countries. Unfortunately, mortality remains high in emerging countries. The evolution of treatment makes it possible to go further by preserving the ...

Last Updated: 30 May 2017

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Intra-arterial Chemotherapy for Children With Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 1 Oct 2016

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Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 16 Oct 2017

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Quality of Life in Children Cured of Retinoblastoma
 

Status: Recruiting

Condition Summary: Retinoblastoma

 

Last Updated: 1 Oct 2016

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