Retinoblastoma

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management | References

Definition

Retinoblastoma is a rare type of eye cancer that originates in the retina, most commonly affecting children under the age of 5. It can affect one or both eyes and is usually diagnosed early due to its distinct symptoms.

Aetiology

Retinoblastoma can occur due to genetic mutations. Approximately 40% of cases are hereditary, caused by a mutation in the RB1 gene. The remaining 60% of cases are sporadic with no family history of the disease.

Pathophysiology

Retinoblastoma develops when the cells in the retina (retinoblasts) continue to grow uncontrollably instead of maturing into retinal cells. This unchecked growth forms a tumour that can fill the eye and potentially spread to other parts of the body if left untreated.

Risk Factors

• Genetic predisposition (family history of retinoblastoma)
• Hereditary mutations in the RB1 gene

Signs and Symptoms

Common signs and symptoms of retinoblastoma include:

• Leukocoria (white reflection in the pupil)
• Strabismus (misalignment of the eyes)
• Poor vision
• Redness and swelling of the eye
• Abnormal eye movements (nystagmus)

Investigations

• Ophthalmoscopy: Examination of the eye with a light and magnifying glass
• Ultrasound: Imaging to assess the structure of the eye
• MRI scan: Detailed imaging to check for tumour spread
• Genetic testing: To identify mutations in the RB1 gene
• Blood tests: To check overall health and organ function

Management

Primary Care Management

• Immediate referral to a specialist centre: For diagnosis and treatment planning

Specialist Management

• Chemotherapy: Systemic, intra-arterial, or intravitreal to shrink the tumour
• Laser therapy: To destroy tumour cells
• Cryotherapy: Freezing the tumour cells
• Radiotherapy: External beam or plaque radiotherapy to target the tumour
• Surgery: Enucleation (removal of the eye) in severe cases to prevent the spread of cancer
• Regular follow-up to monitor for recurrence and manage any complications

References

1. Cancer Research UK. (2024). Retinoblastoma. Retrieved from Cancer Research UK
2. NHS. (2023). Retinoblastoma. Retrieved from NHS
3. British Medical Journal (BMJ). (2022). Retinoblastoma: Diagnosis and Management. Retrieved from BMJ
4. American Academy of Ophthalmology (AAO). (2021). Clinical Practice Guidelines: Retinoblastoma. Retrieved from AAO

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