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Retinoblastoma

Information from the Medical Directory health library.

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This information supports, and does not replace, advice from your healthcare professional.

Overview

Retinoblastoma is a rare eye cancer that primarily affects young children and develops in the retina.

Symptoms

White reflection in the pupil (leukocoria) Crossed eyes (strabismus) Red or irritated eyes Poor vision

Causes

Genetic mutations in the RB1 gene (hereditary and sporadic forms)

Diagnosis

Eye examination under anesthesia in children Ultrasound, CT, or MRI of the eye Genetic testing for RB1 mutations

Treatment

Enucleation (removal of eye) for advanced tumors Laser therapy, cryotherapy, or chemotherapy for localized tumors Follow-up for recurrence and genetic counseling

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