Leukocoria and retinoblastoma

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Target exams

Red flags

• Any white pupillary reflex or an abnormal red reflex in a child is retinoblastoma until proven otherwise, and it demands a same-day referral to the ophthalmology service, because the leukocoria is the single most important sign of childhood eye cancer
• A child under two years with a new strabismus, a turn in the eye, has retinoblastoma until the fundus is examined, because the tumour may sit behind the fovea and present with the squint before the leukocoria
• A bilateral retinoblastoma is a heritable germline RB1 disease, and it carries the risk of the second primary malignancy, the pineal trilateral retinoblastoma and the transmission to the offspring
• The child with retinoblastoma who presents with the proptosis, the orbital cellulitis or the intracranial spread has the advanced extraocular disease that defines the poor-prognosis presentation of the low-resource setting
• A family history of retinoblastoma in a parent or a sibling demands the genetic testing and the early surveillance of the at-risk infant, because the heritable form is passed with the near-complete penetrance

Life stages

Care settings

Clinical exam formats

Board mappings

• Recognises leukocoria, the white pupillary reflex, as the red-flag sign that demands the exclusion of retinoblastoma in any child
• Names retinoblastoma as the commonest primary intraocular malignancy of childhood, arising from the developing retinal cells and driven by the RB1 tumour suppressor gene on chromosome thirteen
• Performs the red reflex test correctly with the direct ophthalmoscope in a dim room and refers any abnormality for the same-day ophthalmology assessment
• Explains the Knudson two-hit hypothesis, the heritable germline and the non-heritable somatic forms, and the implication of the bilateral disease for the genetic counselling and the offspring risk
• Applies the International Intraocular Retinoblastoma Classification of groups A through E and integrates it with the imaging into the risk-adapted treatment plan
• Coordinates the multidisciplinary pathway from the focal laser and cryotherapy through the ophthalmic artery chemosurgery and the systemic chemotherapy to the enucleation, and the survivorship surveillance
• A white pupillary reflex or an abnormal red reflex in a child is retinoblastoma until proven otherwise, and it is referred the same day to the ophthalmology service, because the delay costs the eye and the life
• A child with the bilateral retinoblastoma has the heritable germline RB1 disease, and the pineal trilateral retinoblastoma and the second primary malignancy are the risks that define the surveillance
• The prognosis of retinoblastoma is determined by the income of the country, because the high-resource setting presents with the leukocoria and the cure, while the low-resource setting presents with the proptosis and the death
• Examines the child with the suspected leukocoria systematically, performing the red reflex test in the dim room and mapping the strabismus and the systemic features
• Counsels the family of a child newly diagnosed with the heritable retinoblastoma about the genetic risk, the offspring risk and the lifelong surveillance for the second malignancy
• Synthesises the multidisciplinary plan that balances the globe salvage, the vision, the systemic control and the late effects across the treatment and the survivorship
• Level 1: Recognition of the leukocoria and the strabismus as the red-flag presentations of retinoblastoma, and performance of the red reflex test
• Level 2: Application of the ophthalmology referral, the imaging, the RB1 testing and the International Intraocular Retinoblastoma Classification to the diagnosis and the staging
• Level 3: Coordination of the risk-adapted treatment and the survivorship surveillance across the heritable and the non-heritable forms
• The RB1 tumour suppressor gene on chromosome thirteen and the Knudson two-hit hypothesis that explains the heritable and the non-heritable retinoblastoma
• The International Intraocular Retinoblastoma Classification of groups A through E and the differential diagnosis of leukocoria
• The trilateral retinoblastoma and the second primary malignancy as the risks of the heritable disease, and the global disparity in the presentation and the outcome
• Correct performance of the red reflex test with the direct ophthalmoscope in the dim room, and the recognition of the leukocoria
• Communication of the diagnosis of the heritable retinoblastoma to the family, balancing the cure of the intraocular disease against the lifelong surveillance
• Structured examination that distinguishes the retinoblastoma from the cataract, the Coats disease and the retinopathy of prematurity on the red reflex and the associated features
• Retinoblastoma as the commonest primary intraocular malignancy of childhood, presenting with the leukocoria, the strabismus and the less common red eye or the orbital inflammation
• The diagnostic pathway from the red reflex test and the ophthalmology referral to the examination under anaesthesia, the ultrasound and the magnetic resonance imaging
• The risk-adapted treatment and the survivorship surveillance, including the RB1 genetic testing and the screening for the trilateral retinoblastoma
• Recognition of the leukocoria as the red-flag sign that mandates the urgent ophthalmology referral
• Application of the red reflex test at the newborn and the well-child examination and the correct interpretation of the abnormal reflex
• Coordination of the multidisciplinary pathway with the ocular oncology, the genetics and the paediatric oncology services
• Canadian approach to the urgent evaluation and the referral of the child with the leukocoria or the abnormal red reflex suspected to be retinoblastoma
• The International Intraocular Retinoblastoma Classification and the RB1 testing as the guides to the treatment intensity and the genetic counselling
• The risk-adapted treatment and the survivorship surveillance for the heritable and the non-heritable retinoblastoma