Clinical

Evaluation of
Retinoblastoma
Name: Tiffani Jade Sulzer
Lecturer: Dr. Darispani Mamrikishvili, M.D.
Module: Clinical and Professional Skills V
Introduction
- What is retinoblastoma
- Epidemiology
- Pathogenesis & Genetics
- Clinical Features
- Diagnosis
- Treatment
- References
- Surprise
 What is
Retinoblastoma?
• Retinoblastoma is a rare peadiatric intaocular cancer that
rapidly develops from the embryotic retinal cells of the retina.
• Most common maligment cancer of the eye in children -
Typically < 5 years old
• 60% are sporadic (non-heritable)
• 40% are familial autsomal dominat (90% bilateral)
- inceased risk of other tumors (can be bone, soft tissue or
pineal gland)
 • According to Dimaras et al., (2012) it is estimated that
at a global scale there are 1 case per 15, 000 – 20,000
livebirths.
• Corresponds to 900 new cases annually.
Epidemiology • The disorder has no validated geographic or population
hotspots.
• The greatest disease burden is recorded in large
populations that have high birth rates, such as in Asia
and Africa.
Empirical Research
from Samaila et al.,
(2009)

• In Nigeria
retinoblastoma is
the most common
eye tumour and is
one of the five most
frequent childhood
malignancies.
Pathogenesis and
Genetics
- Retinoblastoma is a neoplasm →
inactivation of RB1 gene, (tumour
suppressor gene) on chromosome 13.
- Mutation in both alleles of the RB1 gene is
necessary for the inactivation of the gene.
- May be either familial or non-familial form.
- Rb gene product limits the cell progression
from the G1 phase to the S phase of the cell
cycle.
- Therefore, functional protein (Rb)
causes cell cycle dysregulation and
subsequent overgrowth
→ tumour formation.
- Hereditary (25–35%) Two Hit hypothesis
- Nonhereditary or sporadic RB (65–75%).
- The hereditary RB is an autosomal dominant
disease with germline mutation; it accounts
for approximately 6% of the newly
diagnosed RB
- The rest of inherited RB is without familial
transmission and occurs due to the
inactivation of the first RB1 allele at the time
of conception (Jagadeesan et al., 2016)
Clinical
Features
• White pupil reflex
- Leukocoria
• Lazy eye (strabismus)
- Mild weakness of the muscles
• Other features:
- eye pain
- bulging of the eye
- vision issues
- Vomiting
- Headache
Worse case
- Intercranial neuroblastic tumor in
trilateral retinoblastoma
- most commonly tumor developed in
pineal gland
Diagnosis (de Graaf et al.,
2012)

• MRI (Brain, Orbits)

- T1 weighted: Bright
- T2 weighted: Dark compared to vitreous
- DETECT OPTIC NERVE INVOLVEMENT → Incranical
Tumor
• Genetic Testing
- Estimate risk of family members and future
offspring
• Metastasis evaluation
- Lumbar puncture, bone marrow.
Treatment • Intravenous Chemotherapy (IVC)
- Reducing and controlling the tumour size
(Ancona- - Preferable to those diagnosed with early retinoblastoma.
Lezama et al., • Proton Beam Radiation Therapy
2020 & Gobins - Radiation using external photon beam radiation
et al, 2011) • Enucleation Surgery
- Removal of eyeball
- may also be part of optic nerve attached
Reference
• Dimaras, H., Kimani, K., Dimba, E. A., Gronsdahl, P., White, A., Chan, H. S., & Gallie, B. L. (2012).
Retinoblastoma. The Lancet, 379(9824), 1436-1446.
• Samaila, M. O. (2009). Malignant tumours of childhood in Zaria. African Journal of Paediatric Surgery, 6(1), 19.
• de Graaf, P., Göricke, S., Rodjan, F., Galluzzi, P., Maeder, P., Castelijns, J. A., & Brisse, H. J. (2012). Guidelines for
imaging retinoblastoma: imaging principles and MRI standardization. Pediatric radiology, 42(1), 2-14.
• Gobin, Y. P., Dunkel, I. J., Marr, B. P., Brodie, S. E., & Abramson, D. H. (2011). Intra-arterial chemotherapy for the
management of retinoblastoma: four-year experience. Archives of ophthalmology, 129(6), 732-737.
• Gobin, Y. P., Dunkel, I. J., Marr, B. P., Brodie, S. E., & Abramson, D. H. (2011). Intra-arterial chemotherapy for the
management of retinoblastoma: four-year experience. Archives of ophthalmology, 129(6), 732-737.
• Ancona-Lezama, D., Dalvin, L. A., & Shields, C. L. (2020). Modern treatment of retinoblastoma: A 2020
review. Indian journal of ophthalmology, 68(11), 2356.
• Jagadeesan, M., Khetan, V., & Mallipatna, A. (2016). Genetic perspective of retinoblastoma: From present to
future. Indian Journal of Ophthalmology, 64(5), 332.
CASE!
• A 9-month-old infant comes
to the paediatrics department
for a well-child visit. His
mother says that her son's
right pupil sometimes has a
whitish appearance. The
ophthalmoscopic examination
shows a whitish mass on the
right retina. Further
examination also shows a
smaller similar tumour in the
left eye. An MRI of the head is
obtained and is shown below.
Based on the findings, which
of the following additional
structures is most likely
affected in this patient?
PINEAL GLAND
• Patients with bilateral or
heritable retinoblastoma
are at greatly increased
risk of TRILATERAL
RETINOBLASTOMA
• An additional tumour is
most commonly seen in
the PINEAL GLAND!