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What Is Retinoblastoma? Causes, Symptoms, and Treatments

Retinoblastoma

Retinoblastoma is a rare but serious form of eye cancer that primarily affects infants and young children, usually under the age of five. It develops in the retina-the light-sensitive layer at the back of the eye responsible for vision. Although uncommon, Retinoblastoma is considered a medical emergency, as early diagnosis and timely treatment are critical for saving both vision and life.


With advancements in ocular oncology, early-stage Retinoblastoma is now highly treatable, especially when managed by a specialised Ocular Oncology Clinic.


Understanding Retinoblastoma


Retinoblastoma occurs when immature retinal cells grow uncontrollably due to genetic mutations. It may affect:

  • One eye (unilateral Retinoblastoma)

  • Both eyes (bilateral Retinoblastoma)

Bilateral cases are more commonly linked to inherited genetic mutations, while unilateral cases are usually non-hereditary.

Retinoblastoma in India: Why Awareness Is Crucial

In India, Retinoblastoma accounts for a significant proportion of childhood eye cancers. Delayed diagnosis is still common due to lack of awareness about early warning signs. According to national pediatric oncology observations, early detection can achieve survival rates exceeding 95%, whereas delayed treatment increases the risk of vision loss and cancer spread beyond the eye.

This highlights the importance of parental awareness and access to specialised eye cancer services.


Causes of Retinoblastoma

The primary cause of Retinoblastoma is a mutation in the RB1 gene, which normally controls cell growth in the retina.

Types of Genetic Causes:

  • Hereditary RetinoblastomaPassed from parent to child; often affects both eyes and appears early in life.

  • Non-hereditary RetinoblastomaOccurs due to spontaneous genetic changes; usually affects one eye.

Importantly, Retinoblastoma is not caused by injury, infection, or lifestyle factors.

Common Symptoms of Retinoblastoma

Early symptoms can be subtle and easily missed. Parents and caregivers should watch for the following signs:

1. White Reflex in the Eye (Leukocoria)

A white or yellowish glow in the pupil, especially noticeable in photographs taken with flash.

2. Squinting or Crossed Eyes

Misalignment of the eyes may indicate vision problems caused by a retinal tumor.

3. Redness or Swelling of the Eye

Persistent redness, pain, or swelling without infection.

4. Poor Vision

The child may have difficulty focusing or tracking objects.

5. Difference in Eye Size or Color

One eye may appear larger, or the iris color may change.

Any of these symptoms require immediate evaluation by an eye specialist.

How Retinoblastoma Is Diagnosed

Diagnosis involves a combination of:

  • Detailed eye examination under anesthesia

  • Ultrasound and MRI imaging

  • Genetic testing (in selected cases)

Early diagnosis plays a vital role in preserving vision and preventing cancer spread.

Advanced Treatment Options for Retinoblastoma

Treatment depends on the size, location, and stage of the tumor, as well as whether one or both eyes are affected.


Common Treatment Approaches Include:

  • Chemotherapy (systemic or intra-arterial)

  • Laser Therapy (Photocoagulation)

  • Cryotherapy (freezing the tumor)

  • Plaque Radiotherapy

  • Surgery (Enucleation) - removal of the eye, only when vision cannot be saved

Modern treatments aim to save life first, then the eye, and finally vision, in that order.

Life After Retinoblastoma Treatment: After Care & Follow-Up

Post-treatment care is essential to ensure recovery and monitor for recurrence.

After Care Includes:

  • Regular eye examinations and imaging

  • Monitoring vision development

  • Genetic counseling for families

  • Use of protective eyewear if one eye is affected

  • Psychological support for children and parents

Children treated early often go on to live healthy, normal lives.


FAQs About Retinoblastoma

1. Is Retinoblastoma curable? Yes. When detected early, Retinoblastoma has a very high cure rate.

2. At what age does Retinoblastoma usually occur? Most cases are diagnosed before the age of five, often in infancy.

3. Is Retinoblastoma hereditary? Some cases are hereditary, especially when both eyes are affected. Genetic testing helps determine this.

4. Can vision be saved in Retinoblastoma? Yes, in many early-stage cases, vision can be partially or fully preserved.

5. Does Retinoblastoma come back after treatment? Recurrence is possible, which is why long-term follow-up is essential.

Final Thoughts

Retinoblastoma may be rare, but its impact is profound. Awareness of early symptoms, prompt diagnosis, and access to a specialised Ocular Oncology Clinic can make a life-saving difference. With expert leadership and advanced care facilities like those at Fortis Eye Institute, children with Retinoblastoma have greater hope for a healthy future and preserved vision.

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