Retinoblastoma

Question 1

EPIDEMIOLOGY

Answer 1

1. Rare

2. Commonest primary intraocular malignancy in children.

Question 2

PRESENTATION

Answer 2

The average age at diagnosis is 18 months.
30% bilateral.
1. Leukocoria 67% 
2. Strabismus 20% 
3. Others 13%
- proptosis
- uveitis
- hyphema
- glaucoma
- absence of the red reflex

Question 3

SPECIAL INVESTIGATIONS

Answer 3

1. examination under anaesthesia
2. X-rays
3. CT
4. LP
5. bone marrow aspiration.
6. ultrasound

Question 4

TREATMENT

Answer 4

1. enucleation
2. photocoagulation
3. cryotherapy
4. chemotherapy.
5. radiotherapy
6. Genetic counseling is important but difficult

Question 5

PROGNOSIS

Answer 5

Overall mortality is 15-20%.

Question 6

CAUSE

Answer 6

1. sporadic: germ cell mutations (inherited)/somatic (not inhereted)
2. genetic
   Genetic counseling is consequently difficult.

Question 7

Pathology

Answer 7

a defect in a gene coding for a tumor suppressor protein.

Question 8

Complications

Answer 8

osteogenic sarcoma

Question 9

Leukocoria

Answer 9

Cataract
Retinoblastoma
Retinal detachment
Retinopathy of prem
Posterior uveitis toxocara
Vitreous haemorrhage 
PHPV