Retinoblastoma: Causes, Symptoms, Diagnosis, Treatment, Prevention And Complications

The thin layer that lines the interior of your eye is called the retina. One type of eye cancer that originates here is called retinoblastoma. Retinoblastoma mainly affects young children, while it also rarely affects adults.

The retina's nerve tissue is responsible for identifying light as it comes into your eye from the front. After impulses from your retina are received by your brain via the optic nerve, your brain interprets those signals as pictures.

The most common variety of eye cancer in youngsters is called retinoblastoma, which is a rare form of the disease. 

Causes Of Retinoblastoma

Retinoblastoma results from changes in the genes of retinal nerve cells. These mutations keep healthy cells alive when they would typically stop developing and multiplying. This mass of cells develops into a tumor.

Retinoblastoma cells may spread to other parts of the eye and surrounding tissues. Moreover, retinoblastoma possesses the capacity to metastasize or extend to different regions of the body, such as the brain and spine.

The genetic mutation responsible for most occurrences of retinoblastoma is not known to have a cause. However, a genetic mutation from one or both parents could be passed down to the progeny.

• A type of retinoblastoma that is inherited
• Gene abnormalities can be passed on from parents to their offspring, increasing the risk of retinoblastoma and other cancers.
• Because hereditary retinoblastoma is inherited in an autosomal dominant manner, children of parents with a single defective gene copy are more likely to acquire retinoblastoma. If one parent has the mutation, every child has a 50% chance of inheriting an altered gene.

Even if a child's chance of retinoblastoma is increased by a genetic defect, cancer is not always unavoidable.

Retinoblastoma is a disorder that usually manifests early in life in children. Additionally, rather than only affecting one eye, inherited retinoblastoma usually affects both.

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Symptoms Of Retinoblastoma

Because the disease typically affects babies and young children, symptoms of retinoblastoma are uncommon. Among the symptoms you could notice are:

• A white tint in the pupil's central circle when light is shining in it, like when a flash shot is taken of the youngster
• Eyes that seem to be directed in many directions
• Poor eyesight
• Redness in the eyes
• Swollen eyes

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Diagnosis Of Retinoblastoma

To diagnose retinoblastoma, the following methods and tests are employed:

• Eye examination: Your optometrist will do a thorough eye exam to determine the root of your child's issues. Your child's doctor might advise administering anesthesia to keep them still long enough for a more thorough examination to be done.
• Imaging examination: To determine whether the retinoblastoma has spread to other structures surrounding the eye, the doctor treating your child may request scans and other imaging tests. Imaging examinations include ultrasound and magnetic resonance imaging (MRI).

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Treatment for Retinoblastomas

The best course of therapy for your child's retinoblastoma will depend on several factors, including the size and location of the tumor. Physicians try their best to choose procedures that don't involve removing an eye or compromising vision.

Chemotherapy

Chemotherapy employs chemicals to destroy cancer cells. Chemotherapy may assist children with retinoblastoma in shrinking their tumors, allowing for the use of laser therapy or cryotherapy to eradicate any cancer cells that may still be present. This may make it more likely that your child won't need surgery to fix their eyes.

There are various types of chemotherapy for retinoblastoma patients.

• Chemotherapy that is applied to the entire body. Chemotherapy drugs spread throughout the body and kill cancer cells when they are injected through a blood vessel.
• Chemotherapeutic injections in the vicinity of the cancer. Intra-arterial chemotherapy is a particular type of chemotherapy in which the drug is inserted straight into the tumor in an artery providing blood to the eye using a thin tube known as a catheter. The doctor might put a tiny balloon into the artery to keep the drug close to the tumor.
• Chemotherapeutic injection is given to the eye. 

Radiation therapy

Radiation therapy uses powerful energy, such as protons and X-rays, to kill cancer cells. The following radiation therapies are used to treat retinoblastoma:

Exposure to radiation nearby. By temporarily putting the treatment device close to the tumor, local radiation therapy also referred to as plaque radiotherapy or brachytherapy is employed.

Radiation therapy for retinoblastoma involves inserting a tiny disc with radioactive materials. For several days following the disc's placement and sewing, the tumor is progressively exposed to radiation.

Radiation therapy administered near the tumor reduces the chance that it will harm healthy tissues outside the eye. This type of radiation is usually used to treat tumors that do not respond to chemotherapy.

External radiation beam. External beam radiation targets the tumor with powerful beams aimed at a large machine located outside the body. The device emits radiation while you are lying on the table.

There are various types of chemotherapy for retinoblastoma patients.

• Chemotherapy that is applied to the entire body. Chemotherapy drugs spread throughout the body and kill cancer cells when they are injected through a blood vessel.
• Chemotherapeutic injections in the vicinity of the cancer. Intra-arterial chemotherapy is a particular type of chemotherapy in which the drug is inserted straight into the tumor in an artery providing blood to the eye using a thin tube known as a catheter. The doctor might put a tiny balloon into the artery to keep the drug close to the tumor.
• Chemotherapeutic injection is given to the eye. Intravitreal chemotherapy involves injecting chemotherapy drugs directly into the eye.

Radiation therapy

Radiation therapy uses powerful energy, such as protons and X-rays, to kill cancer cells. The following radiation therapies are used to treat retinoblastoma:

Radiation beams can have negative consequences when they reach the brain and other delicate areas around the eyes. It is consequently usually reserved for children with more advanced retinoblastoma to receive external beam radiation.

Laser therapy, also known as transpupillary thermotherapy.

In laser therapy, a heat laser is used to directly kill cancer cells.

Cold therapy or cryotherapy

During cryotherapy, a very cold substance, such as liquid nitrogen, is introduced into or near the cancer cells. Once the cells have frozen, the cold substance is removed and they defrost. This freezing and defrosting procedure, which is repeated multiple times throughout each cryotherapy session, kills the cancerous cells.

Surgery to remove the eyes

When no other treatment options are available for retinoblastoma due to its huge size, the cancer may be surgically removed from the eye. In some circumstances, removing the eye may help prevent the cancer from spreading to other parts of the body. Surgery for retinoblastoma-related eye removal entails:

Surgery to remove the affected eye, or enucleate it. During eye removal surgery, surgeons detach the surrounding tissue and muscles and remove the eyeball. A portion of the optic nerve, which connects the back of the eye to the brain, was also removed.

Surgical placement of an eye prosthesis. Immediately after removing the eyeball, the surgeon replaces the lost eyeball with a special ball made of plastic or another material. The muscles controlling eye movement may occasionally have an implant attached to it.

After your child's ocular muscles have healed, the implanted eyeball may move exactly like the natural eye. The artificial eyeball, however, is blind.

Assembling a prosthetic eye. A few weeks after surgery, an artificial eye that has been specially made can be placed over the eye implant. Your child's natural eye can be fitted with the prosthetic eye.

Behind the eyelids is where the prosthetic eye is placed. Your child's ocular muscles will move the eye implant, giving the impression that they are moving the prosthetic eye.

Bleeding and infection are two possible surgical adverse effects. If an eye is removed, your child's eyesight will be compromised, although most children grow accustomed to losing an eye over time. Your youngster may need to wear special, break-resistant glasses and sports goggles at all times to protect the remaining eye.

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Prevention Of Retinoblastoma

Because the majority of cases of retinoblastoma are unknown to medical professionals, there is no known way to prevent the disease.

If your child is diagnosed with retinoblastoma, your doctor may suggest genetic testing to determine whether the cancer was caused by an inherited gene mutation. To find out if genetic testing is right for you, your doctor may advise you to speak with a genetic counselor.

By utilizing genetic testing to determine whether their children may have an increased risk of retinoblastoma, families can organize their children's medical care appropriately. For instance, eye exams may begin soon after delivery or, in certain circumstances, even before birth.

By identifying retinoblastoma early on, when the tumor is still small, there is still hope for treatment and preservation of vision.

Genetic testing can determine whether:

• Your child with retinoblastoma is susceptible to related malignancies.
• A gene mutation your child's retinoblastoma is caused by may be passed down to their offspring.
• Your other children may get retinoblastoma or other related tumors.
• You and your partner could pass on the genetic mutation to future generations.

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Complications Of Retinoblastoma

Children getting therapy for retinoblastoma may experience a recurrence of cancer in and around the treated eye. As a result, the physician attending to your child will schedule additional exams to check for recurrent retinoblastoma. The physician for your child may design a personalized follow-up plan that includes routine eye exams.

Furthermore, in the years after treatment, children with the genetic form of retinoblastoma are more prone to develop other cancers, especially brain tumors like pineoblastoma. As a result, children with inherited retinoblastoma may benefit from regular testing for different types of cancer.

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