RETINOBLASTOMA

Definition:

A rare malignant tumor of the retina, usually occurring in children under 5 years. It arises from mutations in the RB1 gene.

Types:

• Hereditary (40%): Bilateral, multiple tumors; RB1 gene mutation (autosomal dominant)
• Sporadic (60%): Unilateral, single tumor

Clinical Features:

• Leukocoria (white pupil reflex – most common sign)
• Strabismus (squint)
• Vision loss
• Eye redness or swelling
• Proptosis (in advanced cases)

Diagnosis:

• Fundoscopy (white mass in retina)
• Ultrasound of eye
• CT/MRI for extent and calcification
• Genetic testing (for RB1 mutation)

Treatment:

• Enucleation (removal of the eye) for advanced cases
• Chemotherapy (systemic or intra-arterial)
• Laser therapy, cryotherapy, or radiotherapy for small tumors
• Genetic counseling for families

Prognosis:

• Excellent if diagnosed early
• Risk of second cancers in hereditary cases (e.g., osteosarcoma)