2. AUTHORS
1. Dr. Akshay Jawahirlal Bhandari (Assistant
Professor)
2. Dr. Shobhana Jorvekar (Assistant Professor)
3. Dr. Surekha Bangal (Professor)
4. Dr. Dipti Dilip Padghan
3. Introduction
• Retinoblastoma is the most common
intraocular malignancy in children.
• It arises from the neurosensory retina with
proliferation of neural cells, which have
failed to evolve normally.
• Retinoblastoma arises as a malignant
proliferation of the immature retinal neural
cells called retinoblasts.
• Incidence is slightly higher in males than
females.
4. Introduction
• It results either from sporadic or heritable
mutations in the retinoblastoma gene, RB-1
on long arm of chromosome 13.
• Heritable forms greatly elevated risk of
developing a second malignancy, commonly
oestrogenic sarcomas, and lung and breast
cancer.
• In few cases, there is bilateral involvement
although one eye is affected more
extensively & earlier than the other.
5. Case Report
• A 2 years old male child was brought to
Ophthalmology OPD by his parents for the
presence of white reflex in right eye since 1-2
months.
• Not associated with any other complaints. no
history of trauma or eye infection.
• Child was born full term and healthy.
Developmental milestones were adequate for
the age. No history of similar complaints in the
family.
• General & systemic examination of the patient
was normal.
6. Case Report
• Ocular positions were normal & ocular
movements in both eyes were full & free in all
directions of gaze.
• Pupillary reaction to light was absent & patient
was not following the light.
• On Ophthalmic examination in right eye, white
reflex was seen in pupillary region.
• Rest of the anterior segment examination was
within normal limit.
7. Case Report
• Ophthalmoscopic examination of right eye revealed
whitish cauliflower like growth obscuring the details
of the fundus.
• Anterior segment & fundus findings of the left eye
were within normal limit.
• CT scan brain and USG ‘B’ scan of right eye
revealed an echogenic mass on the nasal aspect of
posterior segment with multiple foci of calcification
9. Case Report
• With proper consent & anesthetic fitness patient
was posted for right eye enucleation.
• Enucleation of the eye ball was done &
specimen was sent for histopathological
examination.
• On histopathological examination, microscopic
sections from eyeball showed tumour mass
composed of dense masses of uniform small
round cells.
• Individual cells showed hyperchromatic nuclei &
scanty cytoplasm. Areas of calcification &
necrosis were seen. Sections from optic nerve
were free of tumour.
10. Clinical diagnosis of retinoblastoma was
confirmed
Gross specimenEnucleated eye
ball
Tumour cells with
hyperchromatic
nuclei
11. Discussion
• Retinoblastoma arises as a malignant
proliferationofthe immature retinal neural cells
called retinoblasts i.e., derived from
photoreceptorprecursor cells, which have lost
both anti-oncogenic genes either by deletion or
point mutation.
• Clinically, the most common presenting feature is
white pupillary reflex (also called amaurotic cat’s
eye appearance). Other presenting signs are
strabismus & nystagmus.
12. Conclusion
Although retinoblastoma is a malignant
tumour, it can be successfully treated and
its spread can be prevented in many
cases if early & accurate diagnosis is
made & prompt treatment is given.