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This malignancy stems from biallelic RB1 inactivation on chromosome 13q14, with 40% hereditary (bilateral, multifocal) and 60% sporadic (unilateral) forms; MYCN amplification occurs in some non-RB1 cases. Familial cases follow autosomal dominant inheritance with high penetrance.?
Symptoms and Diagnosis
Key signs include white pupil reflex (leukocoria, 60%), strabismus, red eye, or poor vision; diagnosis uses fundoscopy, ultrasound, MRI, and genetic analysis for family screening. Staging via International Classification guides therapy.?
Treatment Approaches
Options range from focal laser/cryotherapy for small tumors to intra-arterial chemotherapy, systemic chemo, or enucleation for advanced disease; survival exceeds 99% intraocular, but extraocular spread worsens prognosis in low-resource areas. Long-term surveillance monitors secondary cancers.