retinoblastoma

retinoblastoma

malignant tumour of retinal cells
rare
1. but = 5% of severe renal impairment in kids
an affect one or both eyes
all bilat tumours (& 20% of unilat) are hereditary
susceptibility gene
1. chromosome 13
dominantly inherited, but incomplete penetrance
most cases present 0-3 years old
kids from families w/ hereditary form
1. regular screening from birth
clinical features
1. white pupillary reflex
  1. commonest presentation
2. squint
Ix
1. under anaesthetic
  1. MRI
  2. examination
2. NO BIOPSY
Rx
1. aim to cure but preserve vision
2. Rx based on ophthalmological findings
3. enucleation of eye
  1. for more advanced disease
4. chemo
  1. in bilat disease
  2. shrink tumour
  3. fb local laser Rx to retina
5. radiotherapy
  1. mostly for Rx of recurrence
  2. can be used in adv disease
tumours often multifocal
most are cured but many visually impaired
sig risk of 2nd malignancy esp sarcoma among hereditary retinoblastoma survivors

Resource summary

	Created by v.djabatey almost 11 years ago