2. •Retinoblastoma (Rb) is a cancer of the retina.
•most common primary ocular malignancy of
childhood.
•Although this disorder can occur at any age, it
usually develops in young children.
3. •Most cases of retinoblastoma occur in only one
eye, but both eyes can be affected.
•Untreated, retinoblastoma is almost always
fatal, hence the importance of early diagnosis
and treatment.
4. INCIDENCE
•11 new cases per million population-age <5yr
•90% diagnosed by 3-4yr
•98% diagnosed by 5yr
•Increased frequency of disease in developing
countries
•40-70 %of children in developing countries die
and in developed countries only 3-5% die
5. WHAT HAPPENS IN RETINOBLASTOMA
• Retinoblastoma is related to chromosome 13.
•
• long arm of chromosome 13 (13q14.1-q14.2).
• Retinoblastoma occurs when a cell of the growing retina
develops a mutation in the RB gene (a tumor-suppressor
gene).
• This mutation causes the cell to grow out of control and
become cancerous.
8. RB gene +E2F protein which is a nuclear
transcription factor produced during S phase
Prevents cellular replication
A mutated gene becomes phosphorylated
Phosphorylated gene cannot interact with E2F
protein
Uncontrolled cell replication
10. SPORADIC
•Unilateral
•Unifocal
•Appear at an older age
•60% of all cases
•Children of the affected are normal
•Chromosomal anomaly is a somatic mutation.
•Relatives have a low risk of RB development.
11. INHERITTED
• Bilateral
• Multifocal
• Occur at an early age
• 40% of all cases
• Children of the affected have 45% chance of
inheritance.
• Chromosomal anomaly is a germline mutation.
12. •Relatives have a high risk of RB
development.
•Autosomal dominant with high
penetrance.
21. DIAGNOSIS
•History and PE
•Indirect ophthalmoscopy with pupillary
dilation & general anesthesia
•Number, size, location (anterior or
posterior), laterality, disc diameter,
subretinal fluid
26. St. JUDE’S STAGING
• I: Tumor unifocal/multifocal=confined to retina
• II: Tumor unifocal/multifocal=confined to globe
• III: Extraocular-extension of tumor (regional)
• IV: Distant metastasis
27. TREATMENT
• Complex issue.
• Multidisciplinary approach: Ocular oncologist, pediatric
oncologist, radiation oncologist, radiologist and child
psychologist.
•Goals of treatment:
• Save life.
• Preserve vision or salvage eye
• Minimize any complications or side effects of therapy.
28. UNILATERAL-ENUCLEATION
•Involves removal of the eye leaving behind
lids and extraocular muscles but removing
the longest possible segment (10 to 15mm)
of optic nerve in continuity with the globe.
30. CRYOTHERAPY
•Under GA, pencil like probe is placed
precisely on the sclera directly behind the
intraocular focus of RB.
•Rapid freezing forms intracellular crystals
which ruptures tumor cells and causes
vascular occlusion.
32. GOALS OF CHEMOTHERAPY:
•1.Reduce the use of EBRT which reduces
second malignancies and orbitofacial growth
anomalies in early stage.
•2.Reduce the need of enucleation in early stage.
•3.Reduce the risk of local and systemic relapse
in advanced stage.
•4.Improve survival in metastatic disease.
33. •Vincristine, carboplatin ,etoposide
•External beam radiation- chemo and
focal therapy fail
•High dose of chemo and bone marrow
transplantation-better survival
•Routine eye examination
