Retinoblastoma Treatment in Delhi, India

Retinoblastoma is a cancer of the eye that originates in the retina, the most sensitive part of the eye. It usually affects children before 5 years of age but can rarely occur in adults.

Associated Anatomy of Retinoblastoma

The retina of the eye

Retinoblastoma Causes

Genetic Mutations

These are considered the most common cause of retinoblastoma. RB1 gene has been associated with normal cell growth during the eye development before the birth, while the baby is still in the mother’s womb. Mutation in the RB1 gene is associated with retinoblastoma.

Family History

The defective RB1 gene could be passed on to the child, leading to the development of retinoblastoma in early childhood.

Retinoblastoma Symptoms and Signs 

The first sign of retinoblastoma is an abnormal-looking eye. The black part in the center of the eye appears white. The other signs and symptoms of retinoblastoma include the following:

• Discoloration of the eye
• Pain in the eye
• Eyes appearing larger than usual
• Visual disturbances
• Blurred vision
• Loss of vision
• Eyes look in different or cross directions
• Redness in eye white
• Inflammation of the eye

Stages of Retinoblastoma

Retinoblastoma can be classified into the following 5 groups based on the international staging for intraocular retinoblastoma:

Group A

Tumors less than 3 mm are limited to the retina and not close to other eye structures such as optic disc and foveola.

Group B

Tumors that are limited to the retina and are either more than 3 mm or are close to the optic disc and foveola.

Group C

Tumors with a small spread under the retina and to the vitreous humor (jelly-like material in the eye).

Group D

Tumors with a large spread under the retina and to the vitreous humor, leading to retinal detachment.

Group E

Large tumors extend in front of the eyes and cause complete loss of vision.

Retinoblastoma Diagnosis & Tests

Diagnosis of retinoblastoma includes physical examination followed by examination using strong lights, reflex response, and magnifying lens. Further, an eye specialist may recommend undergoing an eye ultrasound to confirm the diagnosis. Additionally, A CT scan or magnetic resonance imaging (MRI) could be used to confirm the diagnosis, location of cancer, and staging.

Differential Diagnosis of Retinoblastoma

Symptoms of retinoblastoma could mimic some other disorders or conditions such as vitreous hemorrhage, astrocytic hamartoma (another type of retinal tumor), toxocariasis, cataract, retinopathy of prematurity, retinal nerve fiber myelination, Coat’s disease, etc. Hence, a differential diagnosis is required to rule out other medical conditions.

Retinoblastoma Treatment

Treatment choice depends on the stage, size, and location of the tumor. The primary aim is to save eyesight, and the following treatment options are available:

Chemotherapy

Chemotherapy is a preferred treatment option to reduce the size and kill the cancer cells. Drugs could be injected into the eye or associated blood vessels.

Cryotherapy

Using a supercooled metal to freeze and kill tumor cells.

Thermotherapy

Using a special laser to destroy tumor cells with heat.

Laser therapy

Laser therapy is used for small tumors to destroy blood vessels (those supply tumors) using high-intensity laser light.

Radiotherapy

Radiotherapy is the use of high beam radiations to kill the tumor cells or sew a disc containing radioactive substance into the eye. It is usually done when all other options have failed.

Surgery

Surgery is preferred in large tumors when removing the tumor, and the eye is the only option left.

Retinoblastoma Prevention

Primary Prevention of Retinoblastoma

Prevention includes working on the potential risk factors of retinoblastoma. The following preventive steps can be taken:

• Genetic counselling: If you are planning a baby, and you have a family history of retinoblastoma, it is important to discuss the risk with your doctor and think of alternative solutions to become parents.

• For expecting couples: Expecting mothers should take good care during pregnancy and avoid exposure to dangerous chemicals or fumes such as gasoline and diesel exhausts. Male partners should avoid smoking, exposure to radiation at the workplace, or hazardous chemicals.

Secondary Prevention of Retinoblastoma

Once you or your child has undergone surgery and/or any other treatment for retinoblastoma, the focus shifts to avoiding any complications or recurrences. The following preventive measures can help delay the recurrence or other complications:

• Regular follow-ups: Follow-ups should be made as per the schedule to assess the recovery, vision, risk of recurrence, and overall quality of life.

• Symptom watch-out: Always look for symptoms of recurrence or complications and seek immediate medical attention.

• Diet: A well-balanced diet helps in quick recovery, and an antioxidant-rich diet could reduce the risk of recurrences or complications.

• Awareness: Being aware of the disease and having realistic expectations helps in better planning and management.

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Risk Factors of Retinoblastoma

The common risk factors for retinoblastoma include:

• Age: Most of the children with retinoblastoma develop in it before the age of 5, and occurrence is rare after 6 years of age.

• Genetics: The risk of cancer increases in children with a family history of retinoblastoma.

• Paternal factors: Advanced age of the father or exposure of father to radiation therapy

• Maternal factors: Diet low in fruits/vegetables during pregnancy or exposure of the mother to gasoline exhaust during pregnancy.

Complications of Retinoblastoma

The most common complications of retinoblastoma include vision loss and complete blindness. Retinal detachment, necrosis of the retina, and involvement of optic nerves are complications that could follow retinoblastoma. Other complications include recurrence following the cancer treatment and metastasis when cancer starts spreading to other tissue and organs such as the brain and spinal cord, making the treatment more difficult.

Epidemiology of Retinoblastoma

Retinoblastoma is a rare disorder, and it usually occurs in children below 5 years of age. It is the commonest of eye cancers and usually affects one eye. However, in every 3rd child with retinoblastoma, it can occur in both eyes.

Expected Prognosis of Retinoblastoma

Early diagnosis increases the chances of cure and better recovery. The prognosis depends upon the age of the child, location of cancer, size of cancer, number of eyes impacted. The majority of children respond well to the treatment, and the cure rate of retinoblastoma treatment is more than 90%.

Natural Progression of Retinoblastoma

Untreated retinoblastoma will start progressing to advanced stages and affecting tissues and organs beyond the retina, such as the brain, spinal cord, or other distant organs.

Pathophysiology of Retinoblastoma

Development of the eyes in the fetus starts while still in the mother’s womb. During the normal developmental stage, retinoblasts are the cells that continue to multiply until a certain stage and then mature into retinal cells. However, in some cases, retinoblasts continue to multiply due to defects in the genetic makeup, and the growth is out of control. This leads to the formation of retinoblastoma.

Frequently Asked Questions

1. Can retinoblastoma be treated?

Yes, retinoblastoma can be treated. The treatment options are determined by the tumour's size and location and the extent of the disease. Treatment options may include chemotherapy, radiation therapy, and/or surgery, and the prognosis can vary depending on the individual case.

2. Can Stage 4 retinoblastoma be cured?

The prognosis for stage 4 retinoblastoma, which means the cancer has spread beyond the eye, is generally poor. However, with aggressive treatment such as chemotherapy, radiation therapy, or surgery, some cases may be cured or have a prolonged survival.

3. Can children with retinoblastoma see?

Children with retinoblastoma may have vision problems in the affected eye or eyes. Treatment can also affect vision, so children with retinoblastoma need to have regular eye exams and follow-up care.

4. What is the most common treatment for retinoblastoma?

The most common treatment for retinoblastoma is determined by the tumour's size and location, as well as the extent of the disease. However, chemotherapy is the most common treatment for retinoblastoma.

5. Is retinoblastoma painful?

Retinoblastoma is generally not painful, but it can cause some vision problems or changes in the appearance of the eye. Treatment for retinoblastoma, such as chemotherapy or radiation therapy, can have side effects that cause discomfort or pain.

6. Does retinoblastoma cause death?

If left untreated, retinoblastoma can be life-threatening, especially if it spreads beyond the eye. Retinoblastoma appropriate treatment, including chemotherapy, radiation therapy, and surgery.

7. Who is at risk for retinoblastoma?

Retinoblastoma is a rare cancer that typically affects young children. Children with a family history of the disease or a mutation in the RB1 gene are at an increased risk. Other factors, such as exposure to radiation, may also increase the risk.

8. Is retinoblastoma fast-growing?

The growth rate of retinoblastoma depends on the individual case. Some tumours can be slow-growing, while others can be more aggressive and grow quickly. To manage the tumour's growth, detecting and treating it early is important.

9. What can prevent retinoblastoma?

Regular eye exams for children and genetic counselling for families with a history of the disease can help with early detection and appropriate management of retinoblastoma.

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