11/14/24, 10\:45 AM Retinoblastoma

Retinoblastoma

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Key points ⚡
Succinct notes to superpower your revision
Retinoblastoma\: commonest intraocular malignancy in infancy; a
uncontrollably.
Hereditary retinoblastoma\: due to inherited mutation in RB1 gene on chromosome 13; often a
Sporadic retinoblastoma\: due to new mutation in RB1 gene in one retinal cell; often a
Risk factors\: family history of retinoblastoma, known genetic mutation of RB1 gene, previous retinoblastoma diagnosis.
Clinical features\: unilateral/bilateral vision loss, strabismus, leukocoria (white pupil), bulging of one eye, red and painful
eye.
Di
hamartoma).
Investigations\:
Laboratory\: FBC, U&E, LFTs, genetic testing for RB1 mutation.
Imaging\: fundus photography,
Diagnosis\: gold standard is ultrasound imaging; clinical examination and MRI scans con
when tumour is con
Management\:
Medical\: chemotherapy (e.g., carboplatin, vincristine) for larger tumours/metastatic disease; local therapies (cryotherapy,
laser therapy) for smaller tumours; radiotherapy if medical management unsuccessful.
Surgical\: enucleation (removal of the eye) for advanced tumours with vision loss;
Complications of retinoblastoma\: retinal detachment, retinal necrosis, optic nerve invasion, blindness, cataracts,
subsequent malignant neoplasms.
Complications of management\: sensorineural hearing loss from chemotherapy, retinoblastoma recurrence, retinal
detachment post cryotherapy, retinopathy post radiation.
Prognosis\: favourable with a 5-year relative survival rate of 97%; death is rare, primarily from tumour spread via meninges or
optic nerve.
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A comprehensive topic overview

Introduction

Retinoblastoma is the commonest intraocular malignancy in infancy a1
cells grow uncontrollably, resulting in a retinoblastoma.
The retinal nerve
You may also be interested in our guide to performing a newborn infant physical examination (NIPE).

Aetiology

Hereditary retinoblastoma is due to an inherited mutation in the RB1 gene on chromosome 13. RB1 is a tumour
suppressor gene, and hereditary retinoblastoma often a
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Sporadic retinoblastoma is due to a new mutation in the RB1 gene in one of the child’s retinal cells and often a
eye.

Risk factors

The following risk factors are associated with an increased likelihood of retinoblastoma\:
Family history of retinoblastoma
Known genetic mutation of the RB1 gene
Previous retinoblastoma diagnosis

Clinical features

Typical clinical features of retinoblastoma include\:
2
Unilateral or bilateral vision loss
Strabismus
Leukocoria (white pupil appearance)
Bulging of one eye (unilateral retinoblastoma)
Red and painful eye
In the context of retinoblastoma, a thorough ophthalmic examination is required by an ophthalmologist. A dilated eye
examination and a red re
identiNIPE.
Figure 1. Loss of red re
re
2

Di

Di
Cataracts
Retinopathy of prematurity
Vitreous haemorrhage
Other retinal tumours (such as astrocytic hamartoma)

Investigations

Laboratory investigations
Relevant laboratory investigations include\:
Baseline blood tests (FBC, U&E, LFTs)\: to assess general
Genetic testing\: for RB1 gene mutation (associated with hereditary retinoblastoma)
Imaging
Relevant imagining investigations include\:
Fundus photography\: allows the tumour appearance and location to be visualised
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Fluorescein angiography\: helps identify abnormal blood vessels and
Ophthalmic ultrasound\: to identify the tumour size and composition
MRI scan\: can check for any abnormalities of the pineal gland and are better than CT at showing the structures of the
eye and brain

Diagnosis

The gold standard diagnostic test for retinoblastoma is ultrasound imaging. 3
Clinical examination of the eye and MRI scans
are useful to con
the tumour is con

Management

Medical management
Larger tumours, or patients with metastatic disease, require chemotherapy (using agents such as carboplatin and
vincristine). Smaller tumours can be treated with local therapies, such as cryotherapy and laser therapy.
Radiotherapy is used in patients with unsuccessful medical management.
Surgical management
Surgical management of retinoblastoma involves an operation to remove the eye (enucleation). This is performed as a last
resort when the tumour has advanced, and the vision has been lost. Subsequently, an arti
4
Figure 2. Retinoblastoma in an
enucleated eyeball.
5

Complications

Complications of retinoblastoma include\:
Retinal detachment
Retinal necrosis
Optic nerve invasion
Blindness
Cataracts
Subsequent malignant neoplasms
The complications of retinoblastoma management include\:
6
Sensorineural hearing loss from chemotherapy
Retinoblastoma recurrence
Retinal detachment post cryotherapy
Retinopathy post radiation
Prognosis
The prognosis of retinoblastoma is favourable, with a 5-year relative survival rate of 97% for children with retinoblastoma.
Death from retinoblastoma is rare and primarily arises from the spread of tumours via the meninges or optic nerve.
Metastases can travel further through the circulation to other viscera and skeletal structures.
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References

Black, G. C., Ashworth, J. L., & Sergouniotis, P. I. (Eds.). (2022). C l i n i c a l o p h t h a l m i c g e n e t i c s a n d g e n o m i c s . Academic Press.
J Morley-Smith. A c h i l d w i t h a w h i t e e y e r e
Moulin, A. P., Gaillard, M. C., Balmer, A., & Munier, F. L. (2012). Ultrasound biomicroscopy evaluation of anterior extension in
retinoblastoma\: a clinicopathological study. B r i t i s h j o u r n a l o f o p h t h a l m o l o g y , 9 6 (3), 337-340.
Ancona-Lezama, D., Dalvin, L. A., & Shields, C. L. (2020). Modern treatment of retinoblastoma\: A 2020 review. I n d i a n j o u r n a l o f
o p h t h a l m o l o g y , 6 8 (11), 2356.
US Government. G r o s s p a t h o l o g y o f r e t i n o b l a s t o m a t u m o r i n e n u c l e a t e d e y e o f t h r e e y e a r o l d f e m a l e . License\: [Public
domain]
StatPearls. R e t i n o b l a s t o m a . Published in 2023. Available from\: [LINK].

Reviewer

Dr Omer Jamall
ST5 Ophthalmology

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Contents

Introduction
Aetiology
Risk factors
Clinical features
Di
Investigations
Diagnosis
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