Brief revision of a very important ophthalmologic & pediatric tumor, includes epidemiology, classification, clinical picture, imaging studies and treatment. Also contains several photos of patients with the disease.

1. By Abril Santos
Universidad Popular Autónoma del Estado de Puebla
International Observership Program
Retinoblastoma
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2. Most frequent malignant intraocular tumor during childhood.
1/15,000 – 1/20,000
• Greater amount due to better treatments.
• Age of diagnosis depends on socio-economic conditions.
Introduction
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3. Age of Diagnosis* Type of Retinoblastoma
12 months Bilateral (20-30%)
24 months Unilateral
18 months Total average
Unilateral Bilateral6/12/2015 3*Average

4. Genetic Characteristics
Presentation of Retinoblastoma
• Sporadic (94%)
• Family History (6%)
• Due to an spontaneous mutation
• 80% of the cases is somatic
• The other 20% is germinal - heritage
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5. Knudson’s Theory
For a retinoblastoma to exist 2 mutations are required to happen.
Hereditary
1°- Germinal
(In all the cells)
2°- Somatic mutation
NON Hereditary
1° y 2°- Somatic
2 mutations must occur
Consecutively in the same ȼ
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6. 6/12/2015 6

7. NON Hereditary
Somatic + somatic mutation : Single
tumor. Unilateral.
Late start (2 years)
Hereditary
Germinal + somatic mutation :
Bilateral, multifocal tumor.
Early start (1 year)
Unifocal Multifocal6/12/2015 7

8. Retinoma*Associated Lesions
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*Retinoma is a benign variant, initially considered a tumor regression, but recent evidences suggest that it rather represents a pre-malignant lesion.
1. Spontaneous Regression of Retinoblastoma
2. Spontaneous Growth arrest of Retinocytoma or Retinoma
Phthisis Bulbi
Retinal Scars

9. Hereditary
Retinoblastoma
More likely to present another kind of
tumor.
• Osteosarcoma
• Pinealoblastoma (Trilateral
retinoblastoma)
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10. Development of the eye from the neural tube.
Optic vesicles and the inverted optic cup are forming the retina.
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11. The
RB1 has a longitude of 180,388 pairs of bases and
27 exons.
The RB1 gen is localized within the 13th
chromosome in the q14.2 region.
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Retinoblastoma
GEN

12. pRb
Functions*
Whatever type of mutations results
in increased RB phosphorylation and
inactivation of RB function.
6/12/2015 12*Inhibits the progression of the cellular cycle before the mitosis

13. PRb1 y
P53• Rb1 y P53 are in charge of stopping damaged cells into the cellular
cycle.
• So, if these are damaged, there will be a filtration of abnormal cells.
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14. Clinical Features
• Asymptomatic – Early stage.
• Leukocoria (66% - 1st sign)
• Strabismus (20%)
• Hyphema
• Rubeosis iridis
• Mydriasis
• Areflexic pupils
• Secondary Glaucoma
• Hypopyon
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15. CLINICAL
FINDINGS
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1st
2nd

16. Diagnosis
• Fundus examination
• Eye ultrasound
• Head CT
• MRI
• Fluorescein Angiography
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17. Types of
Retinoblastoma
Exophytic Endophytic
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18. Endophytic.- Invading vitreous, retinal vascular tortuosity
and dilation.
Variant: Diffuse infiltrative *Simulates endophthalmitis
with hypopyon*
Exophytic.- Invades subretininan space, vasculature goes
over the tumor.
• Variant: Flat retinoblastoma
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19. 1-Initial stage 2
3 4-Advanced6/12/2015 19

20. Extra Ocular Invasion
Orbit and optic nerve
are invaded in very
advanced cases,
specially when there is
secondary glaucoma.
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21. Treatment
• Optic nerve ablation to prevent invasion.
• Ocular enucleation
• Chemotherapy and Radiotherapy
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22. After Treatment
• Ocular Implants
• Ocular Prosthesis
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23. Types of Implants
1. Mesh-wrapped Bioceramic
2. Bioceramic
3. Egg-shaped Bioceramic
4. Silicone
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24. Types of Prosthesis
1. Plastic Acrylic
2. Cryolite glass (only a few)
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25. Differential Diagnosis
Osteosarcoma Cataract Pseudo-
retinoblastoma
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26. Causes for Pseudo-retinoblastoma
Coat’s Disease Persistent Fetal
Vasculature
Vitreous
Hemorrhage
Ocular
Toxocariasis
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27. Comparison of two cases of a Retinoblastoma6/12/2015 27

28. References
1. Shields C, Schoenberg E, Kocher K, Shukla S, Kaliki S, Shields J. Lesions Simulating
Retinoblastoma (Pseudoretinoblastoma) in 604 Cases. Ophthalmology. 2013;120(2):311-
316.
2. Gil-Gibernau J, Galán Terraza A. Retinoblastoma y otras causas de leucocoria en el niño.
[S.l.: s.n.]; 1984.
3. Turaka K, Shields C, Bianciotto C, Shields J. Pinealoblastoma and Pineal Cysts among
Patients with Intraocular Retinoblastoma Treated with Chemotherapy. International Journal
of Radiation Oncology*Biology*Physics. 2011;81(2):S297-S298.
4. Shields J, Shields C, Shields J. Eyelid, conjunctival, and orbital tumors. Philadelphia:
Lippincott Williams & Wilkins; 2008.
5. Rodriguez-Galindo C, Wilson M. Retinoblastoma. New York: Springer; 2010.
6. Knudsen et al, University of Cincinnati, in a study of 2000 stated that pRB is not only
involved in the regulation of the G1/S Checkpoint but it is also required for an intra-S-phase
response to DNA damage.
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