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 1504 free, full-text research articles on human participants. First 3 results:

PIWI-like protein, HIWI2 is aberrantly expressed in retinoblastoma cells and affects cell-cycle potentially through OTX2.
 

Author(s): Suganya Sivagurunathan, Jayamuruga Pandian Arunachalam, Subbulakshmi Chidambaram

Journal:

 

Retinoblastoma (RB), a childhood cancer, is caused by biallelic mutation of the RB1 gene, but its development is not clearly understood. Furthermore, the presence of a cancer stem cell subpopulation in RB might impact its treatment. PIWI protein, known for its role in stem cell self-renewal, ...

Last Updated: 1 Sep 2017

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[Value of serum miR-17-92 cluster in diagnosis of retinoblastoma].
 

Author(s): Yan-Zhao Chen, Zhi-Ping Liu, Ke-Ying Zhou, Bo Li

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jul;19(7):776-780.

 

To investigate the value of serum miR-17-92 cluster in the diagnosis of retinoblastoma (RB).

Last Updated: 12 Jul 2017

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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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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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