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Related Concept Videos

The Retinoblastoma Gene01:20

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,...
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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.
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Related Experiment Video

Updated: Jun 23, 2026

Reconstruct Human Retinoblastoma In Vitro
06:52

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Familial retinoblastoma in developing countries.

Guillermo L Chantada1, Ira J Dunkel, Ibrahim Qaddoumi

  • 1Department of Hemato-Oncology, Hospital JP Garrahan, Buenos Aires, Argentina. gchantada@yahoo.com

Pediatric Blood & Cancer
|May 13, 2009
PubMed
Summary
This summary is machine-generated.

Familial retinoblastoma screening is less effective in developing countries (DC), leading to later diagnoses and poorer outcomes. Early detection through screening significantly improves ocular preservation and survival rates for children in these regions.

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Published on: August 4, 2011

Area of Science:

  • Ophthalmology
  • Pediatric Oncology
  • Global Health

Background:

  • Familial retinoblastoma screening is beneficial but may be suboptimal in developing countries (DC).
  • Retinoblastoma is a rare eye cancer affecting young children, with familial cases often requiring early and consistent screening.
  • Disparities in healthcare access and infrastructure can impact the effectiveness of screening programs.

Purpose of the Study:

  • To compare the effectiveness of familial retinoblastoma screening programs in developing countries versus a reference center in the USA.
  • To identify differences in diagnosis, treatment, and outcomes for familial retinoblastoma patients between developing countries and the USA.
  • To highlight the impact of screening on ocular preservation and survival rates.

Main Methods:

  • Retrospective cohort study.
  • Comparison of familial retinoblastoma patients from five centers in developing countries (Argentina, Brazil, Turkey, Jordan, Venezuela) with a US reference center.
  • Analysis of enucleation rates, risk factors, metastatic disease, age at diagnosis, and survival.

Main Results:

  • Screening detected retinoblastoma significantly less often in developing countries (23.3%) compared to the USA (71.8%).
  • Patients in developing countries were diagnosed later, with more advanced intraocular disease, leading to higher rates of bilateral enucleation.
  • Despite challenges, patients detected by screening in developing countries showed younger age at diagnosis, less advanced disease, and better ocular preservation and survival.

Conclusions:

  • Familial retinoblastoma patients in developing countries are less likely to be diagnosed via screening.
  • Delayed diagnosis in developing countries results in higher morbidity and mortality due to advanced disease and recurrent extraocular retinoblastoma.
  • Implementing and optimizing screening programs in developing countries is crucial for improving outcomes in familial retinoblastoma.