Retinoblastoma

Question 1

What is retinoblastoma?

Answer 1

A rare childhood cancer of the retina, usually presenting in children under 5 years old

Question 2

What is the most common presenting sign of retinoblastoma?

Answer 2

Loss of red reflex (leukocoria) in one or both eyes

Question 3

What other symptom may suggest retinoblastoma?

Answer 3

New-onset squint (strabismus), though loss of red reflex is more specific

Question 4

What is the recommended action if retinoblastoma is suspected?

Answer 4

2WW paediatric ophthalmologist

Question 5

What imaging may support the diagnosis of retinoblastoma?

Answer 5

Fundoscopy, ultrasound, and MRI (to detect tumor and calcification)

Question 6

what gene mutation causes retinoblastoma

Answer 6

RB1 tumour suppressor gene

Question 7

What are the main treatment options for retinoblastoma?

Answer 7

• Local therapy (laser, cryotherapy, brachytherapy)
• Systemic or intra-arterial chemotherapy
• Surgery (enucleation for advanced cases)
• Radiotherapy (reserved for resistant or recurrent disease)

Question 8

What is the prognosis for children with retinoblastoma?

Answer 8

Prognosis is excellent; nearly all children are cured with current treatments

Question 9

What genetic counseling is recommended for retinoblastoma?

Answer 9

All patients and families should be offered genetic counseling and testing for RB1 gene mutations

Question 10

Genetic inheritance pattern

Answer 10

Autosomal dominant
OR
Sporadic