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Retinoblastoma - Causes, Complications, Prevention, Diagnosis, Treatment

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Retinoblastoma is a tumor of the eye and is more common in children. This article explains this condition in detail.

Medically reviewed by

Dr. Prashant Koranmath

Published At February 6, 2021
Reviewed AtDecember 23, 2022

Introduction

Retinoblastoma is a type of cancer that affects the eye and initiates in the retina, which is the lining present within the eye. It is a sensitive part of the inner eye. This type of cancer affects kids more commonly but is rarely known to occur in adults. The function of the retina is to sense or detect the light and send the signals to the brain, where the interpretation of signals to images happens. It can affect single or both eyes.

What Are The Symptoms?

The symptoms are rarely noted as it more commonly affects infants or children. Following symptoms can be experienced by the patient, or your child may complain of the below:

1. Redness in the eyes.

2. Swelling in the eyes.

3. Squint eyes or eyes looking in varied directions.

4. Presence of a white halo or color in the pupil when light is projected over the eyes.

In case there is a family history of retinoblastoma, you should consult your pediatrician regarding regular checkups and further examinations.

How Is It Caused?

1. Genetic:

One of the main causes is genetic mutation occurring in the nerves of the retina, which leads to abnormal growth of cells. Later on, these cells spread to the nearby structures and may even metastasize to the brain and spinal cord. The cause of the genetic mutation is still not known.

2. Inheritance:

Genetic mutations can occur due to inheritance from parents. It has an autosomal dominant pattern. Not all children with family history need to develop this or vice-versa. The inherited form shows symptoms in the early stages and may affect both the eyes.

Are There Any Complications?

1. Recurrence of cancer:

Cancer can again affect or recur in the eyes even after treatment. Hence regular checkups are necessary.

2. Development of other forms of cancer:

Children suffering from retinoblastoma may develop other forms of cancer also after their treatment for retinoblastoma, which makes their regular checkups necessary.

How Can It Be Prevented?

Since the exact cause is not known, there are no proven ways of preventing cancer. But the following can assist in diagnosing it in the early stages:

Genetic testing can be done to diagnose the condition or the risk of developing it in the early stages itself, and thus the prognosis can be improved. If genetic testing detects the possibility of cancer in your child or if there is a family history, your physician will refer you to a genetic counselor.

The genetic counselor will help you understand the importance of genetic testing, its risks and benefits, and the results.

How Can It Be Diagnosed?

When you visit your physician, you or the child will be asked about the signs, symptoms, and family history. Following tests can be performed to diagnose it:

1. Eye examination. This will be done to examine the changes in the eye.

2. Imaging tests. Certain tests can be performed like ultrasound, MRI, CT scans, etc., to check for the extent of cancer.

3. Referral to other doctors. A genetic counselor, oncologist, or surgeon may be included in the team to diagnose and decide the treatment.

How Can It Be Treated?

The treatment depends on the size, extent, and location of the tumor. The metastases, child’s general health, etc., will also be considered in deciding the treatment plan. The main goal is to treat cancer and preserve the vision of the child. Following treatment modalities are available:

1) Chemotherapy:

In this, there is the usage of medications to kill cancer cells. It can be given via oral route as pills or via injections. In children, this type of treatment will help shrink the tumor, following which radiation therapy or cryotherapy, etc., can be done.

Intra-arterial chemotherapy is a type of chemotherapy that has entered the medical field recently. In this, the medicine is directly given to the eyes using a catheter, which is a tiny tube via the artery of the eye.

2) Radiation Therapy:

Radiation therapy also has the same purpose as chemotherapy, but in some cases, it can cure cancer also if it is small. It can be either Internal radiation (brachytherapy) or external beam radiation. Internal radiation uses a device that is placed within the cancer area, and in external radiation, the x-ray beams are provided from outside.

3) Laser Therapy (Laser Photocoagulation):

In this type of treatment, the blood vessels supplying oxygen to the cancerous cells are destroyed using a laser. This will kill the cancerous cells.

4) Cold Treatments (Cryotherapy):

In cryotherapy, a highly cold temperature is used to destroy the cancerous cells. Liquid nitrogen or other cold substances are kept near the cancer cells. This freezes the cells, which are later on removed.

5) Surgery:

Surgery is preferred in patients with large tumors. Sometimes, even the eye can be removed to prevent the spread of the tumor to other structures. Following surgeries can be done:

  • Enucleation: In this, the surgery is aimed at removing the affected eye.

  • Eye implant placement surgery. This is done immediately after removing the eyeball. In this, a plastic or silicone ball is placed in the eye socket, and the muscles that control the eye movements are joined to the implant. This will help in eye movements but will not bring the vision back.

  • Artificial eye placement. After several weeks of surgery, a customized artificial eye is placed over the implant. The artificial eye can be customized depending on your child’s natural or healthy eye.

There can be certain side-effects of surgery like bleeding or infection. The eye removal will lead to loss of vision in the child.

Conclusion:

Retinoblastoma is a tumor affecting the eye, and early detection and management can prevent complications. Online medical platforms will help to get more details on the same, and even a genetic counselor can help you with your doubts. Hence, consult a specialist online to know more about retinoblastoma.

Frequently Asked Questions

1.

Can We Cure Retinoblastoma?

If the retinoblastoma has not spread beyond the eye, the chances of long-term survival in children are 96%. Retinoblastoma can be cured in around 90% of children.

2.

Can Retinoblastoma Cause Blindness?

Although retinoblastoma can result in loss of vision, not all patients with retinoblastoma experience blindness. Retinoblastoma blocks fluid circulation channels, thereby increasing the pressure inside the eye leading to glaucoma, pain, and vision loss.

3.

What Is Retinoblastoma Otherwise Called?

Trilateral retinoblastoma is the other name of retinoblastoma.

4.

Who Is More Prone to Get Retinoblastoma?

Infants and young children are more prone to get retinoblastoma, with it being uncommon in children above the age of 6 years. A child with a parent who had congenital retinoblastoma is more likely to inherit the condition.

5.

What Type of Condition Is Retinoblastoma, Benign or Malignant?

Retinoblastoma is an intraocular malignant tumor that occurs in the retina and is highly prevalent in children below the age of six years.

6.

Is Retinoblastoma an Aggressive Condition?

Retinoblastoma is an aggressive tumor of the eye that might lead to blindness, brain invasion, and eventually death if not treated properly.

7.

Can Retinoblastoma Be Present From Birth?

Retinoblastoma occurs at birth in about one in three children. In such cases, retinoblastoma develops directly in the fetus, and these children grow it within a year.

8.

What Are the Complications of Untreated Retinoblastoma?

Seeding in the eye, detachment of the retina, orbital invasion and necrosis, invasion of the optic nerve and central nervous system, extension of the tumor intracranially, and metastasis are the possible complications of untreated retinoblastoma.

9.

Does Retinoblastoma Occur in Adults?

Retinoblastoma is a pediatric tumor and is extremely rare in adults.

10.

Is Retinoblastoma an Inherited Condition?

In about 40 percent of children, retinoblastoma is an inherited condition from their parents due to mutation of the RB1 gene. These parents would have had retinoblastoma in their childhood.

11.

At What Age Is Retinoblastoma Diagnosed?

Retinoblastoma is common in children below the age of 6 years and is diagnosed below 2 years. However, it can occur in children above the age of 6 years, which is extremely rare.

12.

Is Retinoblastoma a Fatal Condition?

If diagnosed early and treated appropriately, retinoblastoma is curable. However, if cancer has spread beyond the eye and metastasized to other body organs, it can lead to fatal complications.

13.

Can Both Eyes Have Retinoblastoma?

Retinoblastoma can occur in either one of the eyes or both eyes. If there is a mutation in the RB1 gene, then the child is most likely to get bilateral retinoblastoma, and also diagnosis occurs as early as one year before.

14.

What Are the Body Systems Retinoblastoma Affect?

Retinoblastoma, if left untreated, may lead to metastasis of the tumor to the central nervous system, lymph nodes, lung, or bone.

15.

Can We Prevent Retinoblastoma?

Although there is no prevention for retinoblastoma, frequent eye checkups until the age of seven in children with a family history of retinoblastoma are recommended for early diagnosis.

16.

What Increases the Risk of Retinoblastoma?

Children below the age of three years and those with a history of retinoblastoma are more prone to get the tumor. There have also been few risk factors like reduced intake of fruits and vegetables during pregnancy, increased age of the father, gasoline or diesel exhaust exposure during pregnancy, and radiation exposure to the father. These have been proposed to increase the risk of developing cancer, although it is very unclear.

17.

How Is Retinoblastoma Effectively Treated?

Enucleation surgery, laser therapy or photocoagulation, and radiation therapy are effective treatment procedures for retinoblastoma.

18.

Can We Remove Retinoblastoma?

Retinoblastoma is treated by enucleation of the eye, which involves removing the eye and the part of the optic nerve affected.

19.

Does Retinoblastoma Spread to the Brain?

Retinoblastoma spreads through the optic nerve and may metastasize to the brain and central nervous system or spinal cord.
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Dr. Prashant Koranmath
Dr. Prashant Koranmath

Ophthalmology (Eye Care)

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