Overview
Retinoblastoma is a rare but serious form of eye cancer that primarily affects young children. It originates in the retina, the light-sensitive tissue at the back of the eye. In this comprehensive article, we delve into the various aspects of retinoblastoma, including its types, causes, symptoms, prevention, diagnosis, treatment, and management.
Types of Retinoblastoma
- Unilateral Retinoblastoma: Affects only one eye. This is the most common type.
- Bilateral Retinoblastoma: Occurs in both eyes. Approximately 10% to 20% of cases affect only one eye.
Causes of Retinoblastoma
Retinoblastoma is primarily caused by genetic mutations. Here are the key factors:
- Congenital (Heritable) Mutation: In about one-third of cases, the abnormality in the RB1 gene is congenital (present at birth) and affects all cells in the body, including both retinas. Although sometimes called “heritable,” most of these children have no family history of the cancer, and the gene change is not inherited from a parent.
- Sporadic Mutation: In most cases, the gene mutation occurs randomly during early development in the womb.
Risk Factors of Retinoblastoma
- Young Age: Retinoblastoma is typically diagnosed by age 2.
- Inherited Gene Changes: Although not always hereditary, some children inherit the RB1 gene mutation.
- DNA Variations: Changes in the RB1 gene increase the risk of retinoblastoma.
Symptoms of Retinoblastoma
1. White Pupil Reflex: The pupil appears white when light is shone into the eye (leukocoria or cat’s eye reflex).
2. Strabismus: Eyes appear to be looking in different directions.
3. Redness and Swelling: Inflammation of the eye.
Preventions of Retinoblastoma
- Genetic Testing: Families with inherited retinoblastoma should undergo genetic testing.
- Early Treatment: Prompt diagnosis and treatment are crucial.
Diagnosis of Retinoblastoma
- Fundoscopy: Examination of the retina, optic disc, and vitreous humor using an ophthalmoscope.
- Imaging Tests: Ultrasound, CT scan, and MRI provide detailed views of the affected eye.
Treatment for Retinoblastoma
- Medication: Vincristine/Carboplatin (chemotherapy) to shrink the tumor.
- Procedures: Laser therapy, cryotherapy, thermotherapy, and enucleation (removal of the affected eye).
When to seek medical attention ?
- White Pupil Reflex (Leukocoria): If your child’s pupil appears white or reflects a white glow when exposed to light (such as in flash photography), it could be a sign of retinoblastoma.
- Strabismus (Crossed Eyes): If your child’s eyes appear to be looking in different directions, consult a doctor.
- Redness and Swelling of the Eye: Inflammation or redness in the eye should not be ignored.
- Eye Pain or Discomfort: If your child complains of eye pain or discomfort, especially if it persists, seek medical attention.
- Changes in Vision: Blurred vision or sudden changes in vision warrant evaluation by an eye specialist.