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Understanding Retinoblastoma in Children

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Raghav* was looking through the family's recent vacation photographs that had just arrived. He noticed that in many of them, Sneha*, his 1 year old daughter seemed to have white pupils. Thinking that this was like the red-eye effect in photographs, he ignored it. A few months later, both he and his wife Chaya* noticed that their daughter's eyes were swollen and that her vision was becoming poor. Concerned, they took her to an eye specialist, who diagnosed Sneha with retinoblastoma, a disease that had affected her mother as a child and had cost her eyes. However, in Sneha's case, the disease had advanced to a point where one of her eyes had to be removed.


In all the years I have spent in treating eye related ailments, I have seen a heart-breaking number of cases like Sneha’s, where retinoblastoma cost children their eyesight, when it could have been avoided. Retinoblastoma is a cancer of the eye that starts in the retina, the lining inside the eye that is sensitive to light. Today, retinoblastoma affects over 300 children annually in the US, but it’s India that sees the most incidences of this disease, with nearly 1500 cases emerging every year in the country. Sadly, many of these cases end up costing children their eyesight, something that can be avoided with parental awareness, especially since the disease has a hereditary component to it. Below are some of the key aspects about retinoblastoma that I strongly believe everyone should be aware of:


WHO DOES IT AFFECT?

Age: Typically, retinoblastoma presents itself in young children – infants and toddlers – under 5 years. However, it can also occur in adults, although, this is rare.

Occurrence: Generally, retinoblastoma is a rare type of eye cancer but it is the most common type in children that can be seen in either one or both eyes.

Heredity: If even one parent has had a case of retinoblastoma, the child could be at risk for the disease.


WHAT ARE THE CAUSES?

Heredity plays a role in the occurrence of this disease. With genetics being a key influencing factor, parents should be aware that if one parent has the disease, their child/children could have it. And if one child has retinoblastoma, it can occur in their siblings too. In the case of children who have inherited the disease, it is likely that retinoblastoma will express itself at an early age.

When a child has retinoblastoma, it means that the retinal nerve cells have undergone genetic mutations that can lead to the uncontrolled growth of cells, where they are supposed to die after a while. If undiagnosed, retinoblastoma cells can grow and invade other areas of the eye. It can even go on to spread into parts nearby, like the brain.

WHAT ARE THE SYMPTOMS PARENTS & GRANDPARENTS SHOULD BE AWARE OF?
  • White pupils when light is shone (which is what happens when photographs are taken, as we saw in the case of Sneha).
  • Squint – eyes that don’t look in the same direction.

  • Redness in the eyes.

  • Swelling in the eyes.

  • Reduced vision.

WHAT CAN BE DONE ?

By Parents & Grandparents:

If you do notice one or more of the above symptoms in your child, get in touch with an eye specialist.

Get a general eye check done with the paediatrician during regular visits.

If one or more parent or their sibling has been diagnosed as having retinoblastoma at any point in their life, children should be screened as early as possible.


By the Paediatrician (child specialist):

Eye check up in neonates, infants and children during regular paediatric visits to ensure the ‘red reflex’ in the eye. Red reflex test is done in a dimly lit room with an ophthalmoscope about 1 to 1.5 feet from the patient. Abnormal red reflex will need immediate referral.


By the Eye Specialist:

Once you meet an eye specialist, a thorough eye exam will be conducted in a stepwise manner. This may be conducted after using anaesthetics to ensure your child is not uncomfortable.

If the eye specialist suspects retinoblastoma, he/she will conduct additional imaging tests and scans to assess the extent to which the cancer has spread, to suggest a course of treatment.

New born screening in case of family history of retinoblastoma, be it in parent and/ or siblings.


Read more about Retinoblastoma here.


If you would like to know more about retinoblastoma or would like to book an appointment for a consultation to discuss your concerns about the disease, get in touch with Dr. Fairooz P. Manjandavida at dr.fairooz@yahoo.com.


*Names have been changed to protect identities.

  • Aug 15, 2017