Aqueous Humor Liquid Biopsy to Exclude Retinoblastoma for a Child with an Intraocular Mass.

Introduction: Intraocular masses in children may present diagnostic dilemmas when clinical examination and imaging are insufficient to diagnose or exclude retinoblastoma. Furthermore, direct biopsy is contraindicated because of the risk of tumor seeding in retinoblastoma. Recent research has shown that aqueous humor biopsy is a safe method of obtaining cell-free DNA which can be used to diagnose retinoblastoma with high sensitivity and specificity, which provides a significant benefit in cases when the diagnosis is otherwise unclear.

Case presentation: An 11-month-old female presented with poor visual behavior since birth and an intraocular mass in the left eye. Examination under anesthesia revealed a detached retina rolled into a stalk attached to the optic nerve in the right eye and a white retrolental mass with perfused vessels in the left eye. Magnetic resonance imaging demonstrated a heterogeneous mass filling the left globe with diffusion restriction and contract enhancement. Aqueous humor liquid biopsy was performed in both eyes with low DNA yield and no mutations associated with retinoblastoma were identified. The patient was observed with no interval change in examination for 6 months.

Conclusion: Aqueous humor liquid biopsy can be used to exclude a diagnosis of retinoblastoma in cases of pediatric intraocular mass with uncertain diagnosis.