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Retinoblastoma — RACP Paediatrics MCQ

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EasyHaematology & OncologyRetinoblastomaRACP Paediatrics

A 2-year-old girl presents with unilateral leucocoria (white pupillary reflex) noted by the parents. Fundoscopy shows a white intraocular mass. What is the most likely diagnosis?

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Correct answer: B — Retinoblastoma

Leucocoria (white pupillary reflex) in a young child is retinoblastoma until proven otherwise. Retinoblastoma is the most common primary intraocular malignancy in children, with peak incidence at 1–2 years. Urgent ophthalmological referral is required. Bilateral cases suggest a germline RB1 mutation (autosomal dominant). Other causes of leucocoria should be excluded.

Reference: ANZCHOG – 2024 – Treatment Guidelines: Retinoblastoma