Retinoblastoma

Question 1

What is retinoblastoma

Answer 1

Most common primary intraocular tumour in children

Question 2

What are signs of rb?

Answer 2

Strabismus (one eye is misaligned - esotropia/exotropia)
Leukocoria (white pupil)
Red reflex is absent during flash photography - one red eye during flash photo

Question 3

Describe aetiology of Rb

Answer 3

Genetic
Hereditary Rb - autosomal dominant inheritance

RB gene is present in everyone and is normally a Tumour Suppressor Gene or anti-oncogene
Those with hereditable RB have one altered allele in every cell.
If a developing retinal cell undergoes mutation in the other allele a retinoblastoma results.

Question 4

What are the main causes of death in hereditary RB patients?

Answer 4

Secondary malignancies such as osteosarcoma and rhabdomyosarcoma

Question 5

What are treatments for RB?

Answer 5

Chemotherapy - useful in bilateral tumours

Enucleation - eye removal may be needed with large tumours, long standing retinal detachments, and optic nerve innovation or extrascleral extension

External beam radiotherapy - may cause secondary non-ocular cancers in the radiation field

Brachytherapy - more focal but limited to small/medium retinoblastoma that are accessible

Question 6

What is important to do in cases of RB

Answer 6

Screen parents and siblings