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The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The Retinoblastoma Gene

The Retinoblastoma Gene

The Retina

The Retina

The retina is a layer of nervous tissue at the back of the eye that transduces light into neural signals. This process, called phototransduction, is carried out by rod and cone photoreceptor cells in the back of the retina.

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Related Experiment Video

Updated: Mar 21, 2026

Reconstruct Human Retinoblastoma In Vitro

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Retinoblastoma.

Helen Dimaras¹, Timothy W Corson², David Cobrinik³

¹Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

Nature Reviews. Disease Primers

|May 19, 2016

Summary

This summary is machine-generated.

Retinoblastoma, a rare infant retinal cancer, arises from mutations in the RB1 gene. Advances in diagnosis and treatment are improving survival rates globally, with new therapies offering hope for eye salvage and preventing secondary cancers.

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Last Updated: Mar 21, 2026

Reconstruct Human Retinoblastoma In Vitro

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Published on: October 11, 2022

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice

Published on: August 4, 2011

Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy

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Published on: January 22, 2018

Area of Science:

Ophthalmology
Oncology
Genetics

Background:

Retinoblastoma is a rare infant retinal cancer caused by mutations in both RB1 gene alleles.
Loss of the retinoblastoma protein (pRB) function leads to uncontrolled cell division and tumor progression.
Cone photoreceptor precursors are particularly susceptible to RB1 loss, initiating tumorigenesis.

Purpose of the Study:

To summarize the current understanding of retinoblastoma, including its pathogenesis, diagnosis, and treatment.
To highlight global disparities in patient survival and recent improvements in outcomes.
To discuss emerging therapies and the importance of standardized classifications and lifelong follow-up.

Main Methods:

Review of existing literature on retinoblastoma.
Analysis of global survival statistics and treatment trends.
Discussion of novel therapeutic approaches like intra-arterial and intravitreal chemotherapy.

Main Results:

Patient survival exceeds 95% in high-income countries but is less than 30% globally.
Intra-arterial and intravitreal chemotherapy show promise in salvaging eyes.
Standardized definitions for eye involvement are being developed through international collaborations.

Conclusions:

Improved disease awareness, guidelines, and expertise are enhancing retinoblastoma outcomes.
Emerging therapies and standardized classifications are crucial for consistent treatment assessment.
Understanding RB1 loss molecular consequences may lead to new treatments for retinoblastoma and secondary cancers in patients with germline mutations.