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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,...

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Related Experiment Video

Updated: Sep 13, 2025

Reconstruct Human Retinoblastoma In Vitro

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Diffuse infiltrating retinoblastoma: a multicentre, international, data-sharing study.

Ankit Singh Tomar¹, Paul T Finger², Brenda Gallie³

¹Ocular Tumor, Orbital Disease, and Ophthamic Radiation Therapy, The New York Eye Cancer Center, New York, New York, USA.

The British Journal of Ophthalmology

|July 30, 2025

Summary

This summary is machine-generated.

Diffuse infiltrating retinoblastoma (DIR) affects about 1 in 20 patients and often presents with glaucoma or bleeding. This form of retinoblastoma is more lethal than non-DIR cT3, with enucleation revealing high-risk pathology.

Keywords:

Hemorrhage Neoplasia Pathology Retina Uveitis

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Last Updated: Sep 13, 2025

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Published on: October 11, 2022

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Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice

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Published on: August 4, 2011

Area of Science:

Ophthalmology
Pediatric Oncology
Retinoblastoma Research

Background:

Diffuse infiltrating retinoblastoma (DIR) is a rare subtype of retinoblastoma.
Understanding its unique clinical presentation and treatment outcomes is crucial for improving patient survival.

Purpose of the Study:

To characterize the distinct clinical features of diffuse infiltrating retinoblastoma.
To evaluate the treatment outcomes and survival rates associated with DIR.
To compare DIR with non-DIR retinoblastoma in terms of pathology and prognosis.

Main Methods:

International, multicentre, registry-based retrospective case series.
Analysis of pooled data from 132 eyes of 132 patients diagnosed with DIR between January 2001 and December 2013.
Comparison of clinical and pathological features, treatment strategies, and survival rates with non-DIR retinoblastoma cases.

Main Results:

DIR accounted for 4.6% of retinoblastoma cases, with a median age at diagnosis of 24 months.
Common clinical features included secondary glaucoma (67%), retinal detachment (38%), and vitreous hemorrhage (50%).
The 5-year survival rate for cT3 DIR was significantly lower (82%) than for cT3 non-DIR (94%), with a higher risk of metastatic death (HR, 3.3).
High-risk pathological features were more frequent in DIR (41% vs 28%).

Conclusions:

Diffuse infiltrating retinoblastoma is characterized by specific clinical presentations like glaucoma and anterior segment involvement.
DIR is associated with poorer survival outcomes compared to non-DIR retinoblastoma, particularly in cT3 stage.
Enucleation in DIR cases frequently reveals high-risk pathological features, underscoring the aggressive nature of this subtype.