This document summarizes key information about retinoblastoma, a malignant ocular tumour that most commonly affects children under the age of 4. It notes that retinoblastoma can present at birth or be recognized in early childhood, and is typically characterized by a white pupillary reflex known as leukokoria. The tumour can spread systemically through the bloodstream. While sporadic cases account for around 60% of retinoblastomas, 40% are familial and associated with mutations in the RB1 or MYCN genes. Familial tumours also confer an increased risk of bilateral disease and secondary cancers.

1. Anu Martin
BSc. Optometry

2.  Most common malignant ocular tumour in
children.
 It may be present at birth or recognised in
early childhood before the age of 4 years.
 Clinically, the child presents with leukokoria
i.e. white pupillary reflex.
 The tumour can spread widely via
haematogenous route.
 Retinoblastoma may occur as a congenital
tumour too.

3.  Caused
o by Mutation of genes, found in
chromosomes, can affect the cells growth
division and development within the body.
o Alterations in RB1or MYCN can give rise to
retinoblastoma.
 About 60% cases of retinoblastoma are
sporadic and the remaining 40% are familial.
o Sporadic form of retinoblastoma are affected
unilaterally.

4. o Familial tumours
• Are often multiple and multifocal
• Transmitted as an autosomal dominant trait
by retinoblastoma susceptibility gene (RB)
located on chromosome 13.
• Such individuals have a higher incidence of
bilateral tumours
• And have increased risk of developing second
primary tumour, particularly osteogenic
sarcoma.

5.  Sings and symptoms
 Leukokoria (white pupillary reflex)
 Red and irritated eye with glaucoma.
 Delayed development.
 Cross-eyed" or "wall-eyed" (strabismus)
 Eye enlargement.
 Eye swelling.

6. Feature Retinoblastoma
1. Inheritance About 40% cases
2. Age Birth to 4 years
3. Race No predisposition
4. Location Retina
5. Bilaterality Common (30%)
6. Cell of origin Retinal neurons
7. Colour of tumour Creamy
8. Spread Common via both
haematogenous and optic
nerve

7.  Grossly, the tumour characteristically appears
as a white mass within the retina which may
be partly solid and partly necrotic.
 The tumour may be endophytic when it
protrudes into the vitreous,
 or exophytic when it grows between the
retina and the pigment epithelium

9.  The tumour is composed of undifferentiated
retinal cells with tendency towards formation
of photo-receptor elements.
 In the better differentiated area, the tumour
cells are characteristically arranged in
rosettes.
 The rosettes may be of 2 types—
1. Flexner-Wintersteiner rosettes characterised
by small tumour cells arranged around a lumen
with their nuclei away from the lumen.

10. 2. Homer-Wright rosettes having radial
arrangement of tumour cells around the central
neurofibrillar structure.
 The tumour shows wide areas of necrosis
and calcification and dissemination in all
directions—into the vitreous, under the
retina, into the optic nerve and even into the
brain.

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