Retinoblastoma

Retinoblastoma is a malignant tumour that develops in the retina, the light-sensitive layer of tissue at the back of the eye. It most commonly occurs in young children, typically before the age of five, and can affect one or both eyes. If left untreated, retinoblastoma can spread to other parts of the body and become life-threatening. However, with early diagnosis and appropriate treatment, the prognosis is highly favourable.

This disease is not only emotionally challenging for families but also requires a multidisciplinary approach for successful management. Understanding its early signs, diagnostic procedures, and treatment methods can significantly impact outcomes.

Retinoblastoma is a rare form of eye cancer that originates in the retina. It occurs when nerve cells in the retina mutate and grow uncontrollably, forming a tumour. The condition can be hereditary or non-hereditary and may present in one (unilateral) or both (bilateral) eyes.

The retina is critical for vision, converting light into nerve signals that are interpreted by the brain. Any disruption in this delicate system can impair sight. Retinoblastoma, if not caught early, may lead to blindness or metastasis (spread to other organs).

India

In India, retinoblastoma accounts for about 3% of all childhood cancers. According to studies, the incidence is approximately 4 to 5 cases per million children under the age of five. Late diagnosis is more common in low-income regions due to lack of awareness and access to healthcare.

Worldwide

Globally, retinoblastoma affects around 8,000 children each year. The disease is more prevalent in developing countries where delayed diagnosis and limited treatment facilities contribute to higher mortality rates. In high-income countries, survival rates exceed 90% thanks to early detection and advanced medical care.

• Heritable (Genetic) Retinoblastoma: Caused by a mutation in the RB1 gene, this form often affects both eyes and may be passed down from parents.
• Non-Heritable Retinoblastoma: Usually affects only one eye and is not inherited.

Heritable forms are more likely to result in multiple tumours and require closer monitoring for secondary cancers.

Retinoblastoma develops due to mutations in the RB1 gene located on chromosome 13. This gene helps regulate cell growth. When mutated, it fails to stop cells from dividing uncontrollably.

Causes may include:

• Genetic Mutation: Inherited or spontaneous changes in the RB1 gene.
• Family History: Children with a parent who had retinoblastoma are at higher risk.
• Sporadic Mutation: Occurs randomly during fetal development with no family history.

Unlike many adult cancers, environmental and lifestyle factors are not known to play a significant role in retinoblastoma.

• Leukocoria: A white reflection in the pupil (commonly called "cat's eye reflex")
• Strabismus: Misaligned or crossed eyes
• Eye Redness or Swelling
• Poor Vision or Vision Loss
• Eye Pain
• Enlarged Pupil

These symptoms may not always indicate cancer but require immediate medical evaluation, especially in young children.

• Ophthalmic Examination: Initial eye exam using ophthalmoscopy to detect abnormalities.
• Ultrasound: Imaging to identify tumours within the eye.
• MRI or CT Scans: To check for spread beyond the eye.
• Genetic Testing: Identifies RB1 mutations and assesses familial risk.
• Fluorescein Angiography: Evaluates blood flow to the retina.

Early and accurate diagnosis is crucial to preserving vision and life.

Local Treatments

• Laser Therapy (Photocoagulation): Destroys blood vessels feeding the tumour.
• Cryotherapy: Freezes and kills cancerous cells. (Amgicin injection)
• Thermotherapy: Uses heat to destroy tumour tissue.

Systemic Treatments

• Chemotherapy: Shrinks tumours before local treatments; may be systemic or intra-arterial.
• Radiation Therapy: Used sparingly due to long-term side effects, especially in younger patients.
• Surgery: Enucleation (removal of the eye) is considered in advanced cases.

Treatment plans are individualised based on tumour size, location, and whether one or both eyes are affected.

While alternative therapies like Ayurveda and homeopathy are sometimes considered by families, they are not substitutes for evidence-based medical care. Supportive therapies like:

• Nutritional Support
• Psychological Counselling
• Music and Art Therapy

may be used alongside conventional treatments to improve emotional and psychological well-being.

• Family History of Retinoblastoma
• Inherited RB1 Gene Mutation
• Syndromes Involving Genetic Instability
• Young Age (Typically under 5 years)

Genetic counselling is often recommended for families with a history of the disease.
 

• Vision Loss or Blindness
• Spread to Brain or Other Organs
• Secondary Cancers: Especially in genetic cases
• Eye Removal and Psychological Impact
• Treatment Side Effects: From chemotherapy and radiation

Early intervention greatly reduces the risk of severe complications
 

• Regular Follow-Ups: To monitor for recurrence or secondary tumours.
• Vision Rehabilitation: Including visual aids and special education.
• Emotional Support: From counsellors, therapists, and support groups.
• Prosthetic Eyes: If enucleation is done, prosthetics improve appearance and confidence.
• Healthy Lifestyle: Nutritious diet and physical activity to aid recovery.

Parental involvement and encouragement play a key role in a child’s adaptation.

• "It only affects one eye": It can affect both.
• "It’s always inherited": Many cases occur without family history.
• "It always leads to blindness": Early detection can preserve vision.
• "It’s caused by screen time or poor hygiene": There’s no evidence to support this.

Misinformation can delay treatment, so awareness is vital.

• White reflex in the child’s eye (especially in photos)
• Crossed or wandering eyes
• Any sudden vision changes
• Eye pain or redness that doesn’t go away

Early medical attention can save a child’s sight and life.

• What type of retinoblastoma does my child have?
• What are the treatment options?
• What are the risks and side effects?
• Will my child lose their vision?
• Is genetic testing recommended for our family?
• What is the likelihood of recurrence?

• Be Emotionally Available: Listen and offer comfort.
• Help with Logistics: Transportation, childcare, appointments.
• Educate Yourself: Understand the disease to provide informed support.
• Respect Privacy and Autonomy
• Celebrate Small Victories: Every improvement counts.

Community and familial support can make a world of difference.

Retinoblastoma is a rare but serious eye cancer that primarily affects children under five. With early diagnosis and comprehensive treatment, most children can survive and lead healthy lives. Raising awareness, promoting genetic counselling, and ensuring access to healthcare are essential steps in combating this disease. Empowering families with knowledge and support improves not only survival rates but also the overall quality of life.