Hereditary Retinoblastoma
Hereditary Retinoblastoma - Related Videos
07:55
Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
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Cited by 8 •
2011
A method is described to propagate human retinoblastoma tumors in mice. Tumor cells are directly injected into the eyes of immune deficient mice. Secondary tumors have been successfully established using both cells directly harvested from human tumors and cultured tumorspheres.
01:20
The Retinoblastoma Gene
0 Views •
2023
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,...
01:20
The Retinoblastoma Gene
0 Views •
2023
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,...
06:04
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
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Cited by 36 •
2021
The aqueous humor is a high-yield liquid biopsy for retinoblastoma, intraocular cancer that cannot be biopsied in vivo due to the risk of extraocular spread. Herein, a method for safely extracting aqueous humor via clear corneal paracentesis and steps for genomic analysis to identify prognostic biomarkers are presented.
06:52
Reconstruct Human Retinoblastoma In Vitro
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Cited by 2 •
2022
We describe a method for generating human retinoblastoma (RB) by introducing biallelic RB1 mutations in human embryonic stem cells (hESC). RB cell lines could also be successfully cultured using the isolated RB in a dish.
FAQs
A germline RB1 mutation leaves cells with one altered copy of a tumor-suppressor gene. A later somatic alteration in a retinal cell can disable the remaining functional copy, removing the gene’s protective activity in that cell. This two-step process explains why inherited susceptibility can lead to uncontrolled retinal-cell proliferation after an additional cellular change occurs.
Because the initial RB1 alteration is present throughout the body from the beginning, multiple retinal cells may already carry the inherited susceptibility. Independent somatic changes can then affect more than one retinal location, producing multifocal tumors or involvement of both eyes. This biological pattern also contributes to presentation at a younger age than nonhereditary disease.
The key distinction is where the first RB1 alteration occurs. In hereditary disease, the initiating mutation is germline and therefore present in the child’s cells before a retinal tumor develops. Nonhereditary disease does not carry that inherited starting condition. The difference helps explain why hereditary cases more often show younger onset, bilateral disease, or multiple tumors.
Genetic testing can help assess whether the child carries a germline RB1 mutation, which is central to recognizing inherited susceptibility. That result adds context to the tumor pattern and supports evaluation of implications for relatives. Used alongside family counseling, testing helps organize discussions about inherited risk and appropriate ongoing medical surveillance.
Regular ophthalmic surveillance supports early detection of retinal tumors, including lesions that may arise in more than one location or affect both eyes. Detecting disease promptly can help clinicians pursue treatment while considering preservation of vision. Surveillance therefore connects the underlying inherited risk with practical monitoring of the child’s retinal health over time.
Family counseling places the child’s RB1-related findings in a broader family and long-term health context. It can support assessment of inherited risk among relatives and discussion of the possibility of additional primary cancers associated with the condition. This information helps families understand why genetic evaluation and continued surveillance may remain important after initial treatment.