2. History
A 4 years old,
Female patient,
Resident of Faislabad
Presented to us
3. Chief Complaint
Decrease of vision (Visual Inattention)
White eye reflex
Systemic history
No associated symptoms
Other Ocular History
Non significant
Family history
Mother diabetic and using spectacles for both near and far vision
Two siblings Normal
4. Examination
Right Leukocoria
IOP R) 15mmHg L) 17mmHg
Corneal diameter R)11.5mm L) 11mm
Dilated pupil non reacting to light
Mild divergent squint
Other eye Normal with good vision
System examination No signs of lymphadenopathy
No other gross abnormality
7. Retinoblastoma
Primary malignant neoplasm of the retina that arises from immature
retina cells
It is a most common primary intra ocular malignancy of childhood
3% of all childhood cancer
90% cases present before 3year of age.
8. Pathogenesis
Rb gene prevent cellular replication
Disruption of this gene leads to grow of cancer cell
Occur duo to mutation of RB1 Gene, located at 13q14
Both alleles of RB1 must be mutated for a tumor to form.
9. Two Hit Hypothesis
Two mutations required to produce retinoblastoma
The Two Hit hypothesis on was proposed by
Knudson.
Hereditary case
First hit one mutated allele is inherited & present in all somatic cells.
Second hit Further mutagenic event effects the second allele during the
person’s lifetime.
10. In non Hereditary cases
affected individuals are born with two normal alleles.
Both the mutations (Hits) occur somatically with in the single retinal
cell.
11. Presentation
Leukocoria (white pupillary reflex) 60%
Commonest presentation
Strabismus 20%
Secondary Glaucoma
Occasionally associated with buphthalmos
Red eye due to tumor induced uveitis & iris nodule pseudo
hypopyon
12. Orbital inflammation
Mimicking orbital or preseptal cellulitis
Orbital invasion with proptosis
Metastatic disease involving regional lymph node & brain
13. Signs
Intraretinal Tumor
Dome shaped
Gray to white,
Fed & drained by dilated & tortuous vessels,
Developing foci calcification chalky white appearance
They may grow in 3 types
18. Aim of Treatment
When treating retinoblastoma, it is first & foremost to understand
that it is a malignant
In deciding on a treatment strategy, the first goal must be
Saving life,
Then saving the sight.
25. Enucleation
IIRC Group E, Recurrent tumor & failure of other treatment
Minimum manipulation of the globe
Important to obtain a long optic nerve stump (8-12mm)
Sent for histopathological examination & genetic studies
Placement of orbital implant within muscle cone to allow orbital
growth
26. New Treatment Modalities
Intravitreal Chemotherapy
Administration of melphalan has been used for vitreous seeding
High success rate
Needle might create hole and allow tumor spread
Intra arterial chemotherapy
Chemotherapy directly injected in ophthalmic artery
Low dose required
Reduce systemic side effects
Periocular Chemotherapy Injection
Increase intraocular level
27. Prognosis
Survival rate
95%, Year survival (Intraocular tumor)
5%, 5 Year survival (extraocular)
Poor Prognostic Factors
Size of tumor
Optic nerve involvement
Extraocular spread
Older age at presentation
