Overview of Retinoblastoma

Cancer can develop in any part of the body causing the cells to grow uncontrollably. It can even affect the eye and spread to the surrounding areas as well.

Retinoblastoma ( قرحه چشم) is the most common type of eye cancer developing in the retina of the eye but is also a rare form of eye cancer. It mainly occurs in children. 

The retina is the inner layer of cells in the back of the eye. Retina receives the image allowing us to see. 

Retinoblasts are cells that fill the retina when they grow uncontrollably instead of maturing they form retinoblastoma. This starts with a mutation in the RB1 gene responsible for the normal growth of cells in the eye. 

Prevalence of Retinoblastoma

2/3 of retinoblastomas are usually diagnosed before the child turns 2 and 95 percent before age 5. It affects 1 out of 14 to 18 thousand live births. It has a high prevalence rate in Africa, India, and North America. 

In Karachi, 4 out of 100,000 children under the age of 5 and 2.4 out of 100,000 under the age of 10 are diagnosed with retinoblastoma.

Signs and Symptoms of Retinoblastoma

Signs and symptoms of retinoblastoma include:

  • White colour in the pupil of one eye when light is shone
  • Eye redness
  • Swelling in eye
  • Eye looking in different directions

Types of Retinoblastoma

Depending on where and when the change occurs in the RB1 genes, it can result in 2 different types of retinoblastoma:

  1. Congenital or Hereditary Retinoblastoma 

1 out of 3 children has this type of retinoblastoma. The abnormality in the gene is present at birth (congenital). This mutation is present in both retinoblasts as well as in the cells of the body. This mutation is called Germline Mutation. 

Hereditary here means that the mutation occurs in the womb during early development. Children affected by this type usually have bilateral retinoblastoma or multifocal retinoblastoma. 

  1. Sporadic Retinoblastoma or Non-Hereditary retinoblastoma

2 out of 3 children are affected by sporadic retinoblastoma where the mutation is only in one eye. This form of cancer is usually found in older children.

The risk of other cancers developing alongside this is less than congenital retinoblastoma.

Causes of Retinoblastoma

Retinoblastoma occurs due to a genetic mutation in the RB1 gene. Retinoblastoma metastasis happens when the cancer cells spread to the brain and spine. 

Inherited retinoblastoma means that at least 1 parent had the mutated gene that was passed on to the child.


Risk Factors of Retinoblastoma

Lifestyle-related risk factors such as body weight, physical activity, or diet play a major role in many adult cancers. These usually take years to influence cancer risk. And these tend to not affect the cancers occurring in children. Some of the other risk factors include:

Age: Most of the children that get diagnosed with retinoblastoma are younger than 3 years old. Most congenital retinoblastoma is found during the first year of life. While the no-congenital ones are diagnosed in 1 and 2-year-olds. It is rare after the age of 6.

Heredity: The risk of retinoblastoma is much higher in children whose parents have had it before. This form often results in tumors in both eyes(bilateral retinoblastoma). 

Unclear Risk Factors:

Some of the factors are parental and linked to an increased risk of retinoblastoma. Such as,

  • A diet low in fruits and vegetables taken by the mother during pregnancy.
  • Exposure of father to radiation.
  • Exposure to chemicals in gasoline or diesel exhaust during pregnancy.

Complications of Retinoblastoma

The major complications that can occur in people with retinoblastoma are:

  • Metastasis
  • Tumor Recurrence
  • Trilateral 
  • Subsequent Neoplasms



There are no known avoidable ways when it comes to retinoblastoma. If your child develops retinoblastoma, it is important to realize that you or your child did nothing to cause it. Some genes can be passed on from parents to children but the exact cause is still unknown in order to prevent it.



A confirmed diagnosis is given after an intensive and thorough eye exam and imaging tests to see the affected structures around the eye this includes; ultrasound, CT scan, and MRIPediatricians and Oncologists both are consulted.

Treatment of Retinoblastoma | When to Consult a Doctor

The treatment depends on the size and location of the tumor and the health of your child. Doctors usually try to preserve the child’s vision.

  1. Chemotherapy

Chemotherapy is done in children to shrink the tumor so that later on other therapies such as laser therapy, and cryotherapy can be done to kill the remaining cancer cells. It can be done through an intra-vitreal or intra-arterial route.

  1. Radiation Therapy

Both external and internal radiation can be used to destroy the tumor. It has possible side effects.

  1. Laser Therapy

Also known as laser photocoagulation is done to destroy the food source of the tumor.

  1. Cryotherapy

Cold substances are used to freeze and then remove the cancer cells. It is repeated a few times allowing the cancerous cells to die.

  1. Surgery

If the retinoblastoma is too advanced to be treated by other methods, the affected eye is removed and replaced by an artificial eye.

Since it affects children mostly, a thorough exam is required at birth to check for any malignant entities. Adult retinoblastoma is very rare. Usually, children are sedated or put under for examination and treatment.

If you have any queries and concerns regarding retinoblastoma, you can easily reach out to the best eye specialists or oncologists near you anywhere in Pakistan via