Retinoblastoma

What is retinoblastoma?

Retinoblastoma is a type of cancer that develops in the eye, usually before the age of 5 years. The Eli screen tests for the hereditary form of retinoblastoma, which is responsible for about one in three cases of this type of cancer. In the other two out of three cases, the cancer is not hereditary. Hereditary retinoblastoma is caused by DNA changes in the RB1 gene. Changes in this gene also increase the chances of getting certain other types of cancer later in life.

How common is retinoblastoma?

About 1 in 15,000 babies are born with retinoblastoma in the United States each year.

What can be done for retinoblastoma?

Retinoblastoma can be curable when it is diagnosed early. Babies who are known to be at risk for retinoblastoma should get regular, specialized eye exams to detect any early signs of cancer. Early detection and treatment can prevent the cancer from spreading beyond the eye to other parts of the body and becoming life-threatening.

How is retinoblastoma inherited?

Retinoblastoma is caused by changes in the RB1 gene. Hereditary retinoblastoma is a dominant genetic condition, meaning that if a child inherits an altered copy of the RB1 gene from their mother or father, that child will be at increased risk for developing retinoblastoma. If a baby is identified as having a change in the RB1 gene through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/retinoblastoma#
https://www.ncbi.nlm.nih.gov/books/NBK1452/
https://www.orpha.net/data/patho/Pro/en/retinoblastoma_canadian_guidelines_EN2009.pdf

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