[Retinoblastoma]
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Updated: Nov 9, 2026

Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
1Pédiatrie oncologique, Institut Curie, Paris.
Abstract:
Retinoblastoma is the most frequent malignant tumour of the eye in the child; the median age at diagnosis is two years. A model of carcinogenesis by two successive mutations has been devised for this tumour and explains the two forms of the disease, hereditary and non-hereditary. It is most often manifested by a whitish pupillary reflection (leukocoria) or internal strabismus. Funduscopy using general anaesthesia is used to confirm diagnosis and assess endo-ocular extension. When the disease is confined to the retina, local treatment (enucleation, radiation therapy) leads to cure in a very large majority of cases. When diagnosis is made early, particularly as in familial cases, conservative treatment is possible. In intra- and extra-retinal disease, chemotherapy and radiation therapy can improve prognosis.
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