4 things you should know about Retinoblastoma | A guide for parents
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4 things you should know about Retinoblastoma

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The word “retinoblastoma” sounds like such a mouthful and you may or may not have come across it on the internet before. It is important that we, as parents, are aware of what exactly this eye disease is so we will be well prepared when the time calls for us to make the right decisions if our child has the disease. With that in mind, here are 4 things that you should know about retinoblastoma.

retinoblastoma

What is retinoblastoma?

While retinoblastoma is considered to be a rare diagnosis, it is the most common type of childhood cancer that affects the retina [1], which is a layer of nerve cells situated at the back of the eye [2]. Retinoblastoma can affect one (unilateral) or both (bilateral) eyes [3] and the cell that is vulnerable to the development of retinoblastoma is usually present in the child’s retina anytime from before their birth to around the age of 7 years [3].

There are 2 types of retinoblastoma – heritable and non-heritable. The diagnosis of heritable retinoblastoma is usually earlier at an average of 15 months, whereas the diagnosis of non-heritable retinoblastoma occurs at about the age of 24 months [4].

On a global scale, there are about 9000 new cases every year [1] more than 80% of the cases of retinoblastoma occur in low and middle-income countries. Within these countries, the survival rate tends to be lower as compared to cases that happen in high-income countries [5].

Causes of retinoblastoma

retinoblastoma

(Source: American Academy of Ophthalmology)

Retinoblastoma is caused by the mutation of the RBI gene (a gene that suppresses the onset of the disease) such that both copies of this gene are missing from a developing retinal cell in fetuses, infants, and young children [3]

When the RBI gene is mutated, the nerve cells in the retina will undergo certain transformations as they increase in size and number and this change eventually manifests itself into the development of a tumor that is cancerous by nature [2].

If it is left untreated, it could prove to be lethal to not only the state of your child’s eye, but even their overall health. However, if treated in time, the cure rate is close to 100% [3].

While it is indeed something to worry about, our focus should be more on looking out for potential symptoms of retinoblastoma in our children so that we can detect it as early as possible.

What are the symptoms of retinoblastoma?

The presentation of retinoblastoma depends on the stage of the eye disease [7]. The child will usually present with a white pupil or leukocoria, which is the most common sign of retinoblastoma. Alternatively, you will be able to notice a weird reflection in your child’s eye [7].

Another common symptom of retinoblastoma is the observance of misalignment of the eyes or strabismus [7].

If the disease has progressed to a more advanced stage, there could be a change in the colour of your child’s iris (coloured part of the eye) [7]. As the tumor causes pressure within the eye to build up, this could cause the cornea (a transparent layer that protects the eye) to enlarge, thereby resulting in their eye increasing in size as well [7].

At this stage, we know what the possible signs of retinoblastoma are to look out for. However, a question you may be wondering about is – is there any way to avoid this process altogether and prevent our child from getting the disease?

retinoblastoma

Can you prevent this eye disease?

There are many external factors that could possibly have caused the mutation of the RBI gene [3] but as of now, nobody has managed to uncover what causes the RBI gene to mutate in the first place and it still remains a scientific mystery [3].

Unfortunately, this makes it difficult to prevent the onset of retinoblastoma in your child. However, this does not mean that we should remain sitting ducks about the situation.

If your child has retinoblastoma, it is advised that they, including your whole family, undergo genetic testing and genetic counselling. It is a crucial component of care for them to receive as the knowledge that you will receive from genetic testing and counselling can contribute towards the assessment of short-term and long-term risks of your child’s retinoblastoma [4]. While this cannot prevent your child from getting retinoblastoma, this can help to prevent their condition from advancing any further as you and your family will be able to better manage their diagnosis.

Retinoblastoma sounds like such a scary reality to deal with but as parents, it is our duty to understand the things that affect our children’s eye health so that we will be more equipped to protect them.

References:

[1] H. Dimaras et al., “Retinoblastoma” The Lancet, vol. 329, no. 9824, pp. 1436-46, April 2012, doi: https://doi.org/10.1016/S0140-6736(11)61137-9.

[2] “What Is Retinoblastoma?” American Academy of Ophthalmology. [Online]. Available: https://www.aao.org/eye-health/diseases/what-is-retinoblastoma. [Accessed: 08 Nov 2021]

[3] S. E. Soliman et al., “Genetics and molecular diagnostics in retinoblastoma—an update,” The Asia-Pacific Journal of Ophthalmology, vol. 6, no. 2, pp. 197-207, 2017.

[4] A. Mallipatna, M. Marino, & A. D. Singh. “Genetics of retinoblastoma” The Asia-Pacific Journal of Ophthalmology, vol. 5, no. 4, pp. 260-64. 2016. doi: 10.1097/APO.0000000000000219.

[5] D. A. Lezama, L. A. Dalvin & C. L. Shields, “Modern treatment of retinoblastoma: A 2020 review.” Indian Journal of Ophthalmology, vol. 68, no. 11, pp. 2356-65, Nov 2020, doi: 10.4103/ijo.IJO_721_20.

[6] N. Cassoux et al., “Retinoblastoma: update on current management,” The Asia-Pacific Journal of Ophthalmology, vol. 6, no. 3, pp. 290-956, May 2017, doi: 10.22608/APO.201778

[7] H. Dimaras et al., “Retinoblastoma,” Nature reviews Disease primers, vol. 1, no. 1, pp. 1-23, 2015.

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