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Paeds Vivasophthalmology

Paeds Vivas · ophthalmology

Leukocoria and retinoblastoma: Viva

Branching clinical structured oral on leukocoria and retinoblastoma in children, covering the red reflex test and the urgent referral, the RB1 tumour suppressor gene on chromosome thirteen and the Knudson two-hit hypothesis, the International Intraocular Retinoblastoma Classification of groups A through E, the ophthalmic artery chemosurgery with melphalan and topotecan, the trilateral retinoblastoma, the heritable bilateral disease and its second-malignancy risk, and the global disparity in the survival.

branching clinical structured oral5 min readVerification in progress

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Prompt
A fourteen-month-old boy is brought by his parents, who have noticed a white glow in his left pupil in flash photographs. The red reflex test shows a cream-white reflex on the left and a normal orange-red on the right. The ocular ultrasound shows an intraocular mass with calcification. The examiner asks how you frame the problem, how you perform the red reflex test and make the urgent referral, what the RB1 gene and the two-hit hypothesis mean, how you classify and treat the disease, and how your approach changes for a child with the bilateral heritable disease and the trilateral retinoblastoma.

This is a branching oral built to probe the reasoning that holds the red reflex test and the urgent referral at the centre, the RB1 two-hit biology and the International Intraocular Retinoblastoma Classification, and to expose the candidate who has memorised the headline without the safety-critical corners. The questions escalate from the framing to the red reflex test, the molecular biology, the treatment pathway and the heritable disease, with deliberate probes into the trilateral retinoblastoma and the global disparity. [1]

Opening question: framing the problem

The examiner opens with the white glow in the photograph and asks: how do you frame this problem in a single sentence, and what is your first step? [1]

A strong answer names the leukocoria as retinoblastoma until proven otherwise, confirms the finding with the red reflex test, and states that the first step is the same-day referral to the ophthalmology service. [1][2]

Model answer. This child has leukocoria, the white pupillary reflex, and it is retinoblastoma until proven otherwise. The first step is to confirm the finding with the red reflex test in the dim room and to refer child same day to the ophthalmology service, because the delay of weeks can convert the curable intraocular tumour into the lethal extraocular disease. [1]

Probe one: the red reflex test

The examiner presses: describe the red reflex test, and tell me what is abnormal. [1]

A strong answer describes the technique and the interpretation. The test is performed in the dim room with the direct ophthalmoscope held close to the examiner's eye at thirty centimetres from the child, with the ophthalmoscope at the zero or a low dioptre, and the light is shone at both pupils simultaneously while the examiner compares the colour and the brightness of the reflex in the two eyes. The normal reflex is the warm orange-red, symmetric and filling the pupil. The abnormal reflex is the white, the yellow-white, the asymmetric or the absent, and any abnormality demands the urgent referral. The test is performed at the newborn examination, at the six-week check and at every well-child visit. [1][2]

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References7ShowHide
  1. [1]Dimaras H, Corson TW, Cobrinik D, et al. Retinoblastoma. Nat Rev Dis Primers, 2015.PMID 27189421
  2. [2]Fabian ID, Abdallah E, Abdullahi SU, et al. Global Retinoblastoma Presentation and Analysis by National Income Level. JAMA Oncol, 2020.PMID 32105305
  3. [5]Chernoff J The two-hit theory hits 50. Mol Biol Cell, 2021.PMID 34735271
  4. [7]Sábado Alvarez C Molecular biology of retinoblastoma. Clin Transl Oncol, 2008.PMID 18628066
  5. [8]Rodjan F, de Graaf P, Brisse HJ, et al. Trilateral retinoblastoma: neuroimaging characteristics and value of routine brain screening on admission. J Neurooncol, 2012.PMID 22802019
  6. [9]Mouratova T Trilateral retinoblastoma: a literature review, 1971-2004. Bull Soc Belge Ophtalmol, 2005.PMID 16281731
  7. [10]Taich P, Requejo F, Asprea M, et al. Topotecan Delivery to the Optic Nerve after Ophthalmic Artery Chemosurgery. PLoS One, 2016.PMID 26959658
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