Definition:
Retinoblastoma is a malignant retinal tumor affecting mostly children under five. The hereditary form, linked to RB1 gene mutation, often involves both eyes and multiple tumor foci.
Incidence:
Occurs in 1 out of every 18,000 live births. The familial form may affect siblings or parents.
Symptoms:
• Leukocoria (white pupillary reflex)
• Strabismus
• Vision loss, eye pain, swelling
Diagnostic Methods:
• Ophthalmoscopic exam
• Ultrasound and MRI
• Genetic testing
• Examination under anesthesia
Treatment Options:
• Chemotherapy (systemic or intra-arterial)
• Cryotherapy
• Laser thermotherapy
• Radiotherapy
• Enucleation (eye removal in advanced cases)
• Genetic counseling
Follow-up:
Survival rate >90% with early diagnosis. Hereditary cases require long-term screening for secondary malignancies.