Retinoblastoma

A rare childhood cancer, which may be spontaneous or hereditary — an autosomal dominant gene that itself may arise as a spontaneous mutation or be inherited.

Epidemiology

1 in 15,000–30,000 live births; usually diagnosed before age 2.

Presentation

May present with eye pain or decreased vision, but is usually first noticed on examination rather than by symptom.

Examination

• Leukocoria — a white reflex in the pupil (the classic finding)
• Strabismus

Investigations

• Fundus examination with indirect ophthalmoscopy under general anaesthesia
• Orbital ultrasonography

Management

• Urgent referral to ophthalmology for diagnosis confirmation and treatment
• Children of a parent with a retinoblastoma history should be screened at birth and every 4 months until age 4