Synonyms

• RB
• hereditary retinoblastoma
• familial retinoblastoma

Category

Syndrome

Gender

Both equally

Epidemiology

• Autosomal dominant cancer predisposition Syndrome
• RB1 germline mutations
• Incidence hereditary 1 in 15,000
• High risk for multifocal bilateral disease
• Increased risk secondary malignancies (especially Bone sarcomas)

Clinical Features

• Eye cancer (retina) typically age <5 years
• Leukocoria (white pupil reflex)
• Strabismus
• Ocular pain/inflammation
• Metastases if advanced

Location

• Retina bilaterally in 25% hereditary
• Associated with Bone sarcoma risk (femur, tibia, pelvis)

Imaging

• Ophthalmology ultrasound: initial screening
• MRI orbit: assess extent
• Full systemic staging if malignancy confirmed
• Surveillance for secondary Bone sarcomas

Pathology

• Immature Neural retinal cells
• High-grade malignancy
• Calcifications common

Genetics

• RB1 germline mutations
• Autosomal dominant inheritance
• High penetrance, Variable expression

Treatment

• Chemotherapy
• Radiotherapy
• Laser therapy or cryotherapy (globe-sparing)
• Enucleation if necessary
• Surveillance for secondary malignancies

Prognosis

• Good if caught early
• 95% cure rate with modern therapy (eye-sparing)
• Secondary malignancy risk 50% by age 50

Key Points

• SYSTEMIC GENETIC Syndrome
• RB1 germline mutations
• High secondary malignancy risk
• Requires lifetime surveillance

Workup - Blood Tests

RB1 genetic testing

Workup - Local Imaging

• Ophthalmology examination: essential
• MRI orbit: local staging
• Whole-body imaging: systemic staging
• Baseline skeletal survey (secondary malignancy risk)

Workup - Biopsy

Not required (diagnosis via imaging)

Workup - Staging

• International Classification of Retinoblastoma (ICRB)
• Full metastatic staging

Workup - Other

• Ophthalmology consultation mandatory
• Genetics consultation
• Family member testing (RB1)
• Psychological support

Follow-up Summary

• Regular ophthalmology surveillance
• Annual whole-body imaging first few years
• Lifelong surveillance for secondary malignancies
• Bone sarcoma risk especially age 5-30 years
• Genetic counselling for family