a brief presentation explaining the genetics behind retinoblastoma

1. RETINOBLASTOMA

2. What is it?
 Cancer of retinal cells
 1:20,000
 40% hereditary, the rest of the cases are
isolated

3. Isolated retinoblastoma
 Unilateral
 Late onset
 Development of secondary
tumors is frequent

4. Hereditary retimoblastoma
 Bilateral
 Early onset
 Autosomal dominant
 Mutation on RB1 gene on 12q14

5. symptoms
Also: poor
vision and pain

6. Screening and treatment
Genetic screening- aim is to
identify the mutant gene.
Important for prophylactic
measures such as
ophthalmology screening and
tumor removal

7. More therapy options…
 Radiation
 Cryotherapy
 Laser therapy
 Chemotherapy
 stem cell rescue