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Updated: Oct 3, 2026

Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
Late Exudative Retinal Detachment in Prior Treated Retinoblastoma
Celine Chaaya1,2,3, Marfy Abousifein3, Efren Gonzalez2
1Department of Ophthalmology, Massachusetts Eye and Ear.
Abstract:
An 18-year-old RB1-mutation carrier with a history of retinopathy of prematurity not requiring treatment and previously treated unilateral multifocal retinoblastoma re-presented after loss to follow-up with new peripheral vision loss. Imaging revealed an inferior exudative retinal detachment with telangiectasia, lipid exudation, and peripheral nonperfusion, without evidence of mass or calcification. Aqueous humor RB1 liquid biopsy was negative for tumor DNA. Exudation and hemorrhage initially worsened despite laser and anti-vascular endothelial growth factor therapy, but later showed partial improvement. Subsequent progression of cataract, posterior synechiae, and a bombe configuration without neovascularization suggested a Coats-like vascular response. No similar cases have been reported in the literature. Ongoing management includes intravitreal injections, selective laser, and close monitoring to distinguish vascular sequelae from recurrence.
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