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Retinoblastoma

  • Commonest intraocular malignancy in childhood

    • represents 3% of all childhood malignancy

    • typically presents before age 2 years

  • Excellent survival rate: >95% â€‹

  • Caused by mutations in RB (retinoblastoma) gene

    • this is a tumour suppressor gene that normally inhibits uncontrolled cell proliferation​

  • Can be sporadic (majority) or inherited

  • In inherited cases, a single defective RB1 gene is passed on to offspring

    • A “second hit” is required to mutate the second copy and allow the tumour to grow -spontaneous somatic mutation

    • most inherited cases are bilateral

  • In the sporadic form, two spontaneous mutations occur in the same primordial retinal cell

    • more commonly unilateral​

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Presentation

  • leucocoria

  • can have a squint due to poor vision in affected eye

  • if advanced, can cause painful, red eye

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Treatment

  • Systemic chemotherapy

    • Can have dramatic effects, shrinking even large tumours

    • +- local chemotherapy - intravitreal injection or intra-arterial

  • Local (ocular) treatment

    • Laser

    • Cryotherapy

    • Radioactive plaque

    • Enucleation - in advanced cases, sometimes necessary to remove eye to prevent spread to optic nerve and into central nervous system

  • Regular follow-up 

  • Genetic counselling

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References: 

  • James, B., Bron, A. J. and Parulekar, M. V. (2016) Lecture Notes Ophthalmology. 12th edn. Nashville, TN: John Wiley & Sons (Lecture Notes)

  • Salmon, J. F. (2019) Kanski’s clinical ophthalmology. 9th edn. London, England: Elsevier Health Sciences.

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