Paediatrics

Retinoblastoma

Retinoblastoma is a malignant retinal tumour of early childhood, usually signalled by leukocoria or strabismus; an absent fundal red reflex needs urgent specialist ophthalmological assessment because early treatment can save life, the eye and vision.

In a nutshell

Retinoblastoma is a retinal cancer of early childhood. Leukocoria or an absent fundal red reflex, often noticed in a photograph, and new squint are key clues. Refer urgently through the suspected-cancer ophthalmology pathway. Diagnosis is by specialist examination under anaesthetic and imaging, with RB1 testing for heritable risk. Treatment aims first to save life, then the eye and useful vision, using local therapy, chemotherapy or enucleation as appropriate.

Classic presentation

A toddler's pupil appears white in a flash photograph and the child has a new squint. Treat an absent fundal reflex as an urgent referral finding, not a routine optometry issue.

Key points

Leukocoria or absent fundal red reflex needs urgent specialist ophthalmological assessment.
New squint may be the first sign; a squint with absent reflex needs the relevant neurological cross-referral too.
Heritable RB1 disease is more likely to be bilateral or multifocal and changes family screening.
Diagnosis is by specialist EUA and imaging; do not biopsy an intraocular mass in primary care.
Treatment priority is life, then eye preservation, then vision.
Follow-up includes repeated specialist examinations and long-term genetic/second-cancer surveillance when heritable.

First-line investigation

Urgent ophthalmological assessment, usually specialist examination under anaesthetic with ocular imaging.

Management

Refer the abnormal reflex

Absent fundal red reflex or leukocoria needs urgent ophthalmology through the suspected-cancer pathway; escalate a new squint with absent reflex using the neurological cross-referral.¹

Examine and stage safely

Specialist EUA, ocular ultrasound, MRI and genetic testing define tumour extent, bilateral disease and heritable risk; do not arrange primary-care biopsy.^2,4

Treat for cancer control and vision

Use local therapy, chemotherapy, enucleation or selected radiotherapy according to tumour extent and the specialist plan.^2,3

Surveil both child and family

Continue examinations, monitor vision and prosthesis, and provide RB1 counselling and long-term second-cancer surveillance when heritable.²

Exam traps

Leukocoria is not normal photographic variation until assessed.
A normal-looking eye between photographs does not exclude disease.
Do not use CT routinely when specialist MRI can answer the staging question without ionising radiation.
Do not biopsy an intraocular mass outside a specialist centre.
Unilateral disease does not completely exclude germline RB1 risk.

Illustrations

LeukocoriaA clinical photograph showing a white pupillary reflex in one eye; pair it with a clear warning that any absent or abnormal fundal reflex needs urgent specialist assessment.J Morley-Smith, Wikimedia Commons · Public domain

Key sources

This page is exam revision material, not medical advice, and must not be used for patient care. Always check drug doses against the BNF and current guidance. Full disclaimer.