• Leukocoria in Normal-sized Eye
• CALCIFIED MASS
– Retinal astrocytoma
• NONCALCIFIED MASS
– Toxocaral endophthalmitis
– Coats disease
• Leukocoria with Microphthalmia
– Persistent hyperplastic primary vitreous (PHPV)
– Retinopathy of prematurity
– Bilateral PHPV
• In 1597 it starts with a man named Pieter Pauw and
his autopsy findings of cancerous tumor originating in
a 3 year-old eye. The results of the autopsy were
later found by Edwin B. Dunphy who suggested
In 1872 a Brazilian ophthalmologist called Hilário
de Gouvêa treated a boy with retinoblastoma.
Later in life, the boy had two daughters that also
had retinoblastoma. This proposed perhaps the
disease was genetic.
In 1986 Dr. Knudson discovered the retinoblastoma
gene and then a year later he isolated the gene
making it the first ever tumor suppressor to be
In one of Knudson’s cases he found that one family
had a genetic past of the disease and found that the
gene causing the disorder is located in chromosome 13
that has been mutated.
Rare malignant congenital intraocular tumor arising
from primitive photoreceptor cells of retina (included
in primitive neuroectodermal tumor group)
AKA neuroepithelioma of the retina
Cause of Retinoblastoma
Mutations in the RB1 gene are responsible for most
cases of retinoblastoma. RB1 is a tumor suppressor
gene, which means that it normally regulates cell
growth and keeps cells from dividing too rapidly or in
an uncontrolled way.
A small percentage of retinoblastomas are caused by
deletions in the region of chromosome 13 that
contains the RB1 gene. Because these chromosomal
changes involve several genes in addition to RB1,
affected children usually also have;
microcephaly, ear changes, facial dysmorphism,
mental retardation, finger + toe abnormalities,
malformation of genitalia.
RB1 mutations occur only in the eye and cannot be
passed to the next generation.
typically only one eye is affected and there is no
family history of the disease.
Affected individuals are born with two normal copies
of the RB1 gene.
Then, usually in early childhood, both copies of the
RB1 gene in retinal cells acquire mutations or are lost
Mean age at presentation--23 months
RB1 mutations occur in all of the body's cells, including
reproductive cells (sperm or eggs).
People with germinal retinoblastoma may have a family
history of the disease, and they are at risk of passing on
the mutated RB1 gene to the next generation.
Mutations in the RB1 gene appear to be inherited in an
autosomal dominant pattern.
Autosomal dominant inheritance suggests that one
copy of the altered gene in each cell is sufficient to
increase cancer risk.
A person with germinal retinoblastoma may inherit
an altered copy of the gene from one parent, or the
altered gene may be the result of a new mutation that
occurs in an egg or sperm cell or just after
For retinoblastoma to develop, a mutation involving
the other copy of the RB1 gene must occur in retinal
cells during the person's lifetime.
This second mutation usually occurs in childhood,
typically leading to the development of
retinoblastoma in both eyes.
1.Heritable sporadic form
1.Heritable sporadic form (20-25%)-- sporadic germinal
mutation (50% chance to occur in subsequent
Mean age at presentation:
12 months--bilateral retinoblastomas in 66%
2.Familial retinoblastoma (5-10%)
autosomal dominant with abnormality in
Mean age at presentation: 8 months
usually 3 to 5 ocular tumors per eye
bilateral tumors in 66%
Risk of secondary nonocular malignancy:
Osteo, chondro, fibrosarcoma, malignant
Presentations of retinoblastoma
• Leukocoria - 60%
• Strabismus - 20% • Secondary glaucoma
• Anterior segment invasion • Orbital inflammation
• Orbital invasion
Imaging of RB
Imaging is crucial for timely management and
survival of patients with retinoblastoma.
Cross-sectional imaging are done to exclude ;
Other retrobulbar tumours with globe invasion,
Optic nerve invasion by the retinoblastoma
Heterogeneous hyperechoic solid intraocular mass
Cystic appearance upon tumor necrosis
Secondary retinal detachment in all cases
Acoustic shadowing (in 75%)
Vitreous hemorrhage frequent
Figure 7e. Retinoblastoma in a 7-year-old girl who complained of blurry vision in her right
Figure 7d. Retinoblastoma in a 7-year-old girl who complained of blurry vision in her right
Chung E M et al. Radiographics 2007;27:1159-1186
CT is sensitive to calcification.
Clumped or punctate calcification (in 95 per cent of
cases) in the posterior part of the globe extending into
• Calcification in an intra-ocular mass in a child (3 yrs,
retinoblastoma until proven otherwise. Absence of
calcification means this diagnosis is unlikely, since it
is rare in other causes of leukocoria.
• Retinoblastoma is the most common cause of orbital
Solid smoothly marginated lobulated retrolental
hyperdense mass in endophytic type
Exophytic type grows subretinally causing retinal
Partial punctate / nodular calcification
Dense vitreous (common)
Extraocular extension (in 25%): optic nerve
enlargement, abnormal soft tissue in orbit,
CT diagnosis of retinoblastoma
Figure 8a. Trilateral retinoblastoma in a child of unknown age.
MRI is the modality of choice for pre-treatment
staging on retinoblastoma
T1 : Intermediate signal intensity, hyperintense c.f.
T2 : Hypointense c.f. vitreous
subretinal exudate usually hyperintense on
T1WI + T2WI (proteinaceous fluid)
T1 C+ (Gd)
The mass usually enhances relatively homogeneously
Larger tumours often have areas of necrosis,
rendering it heterogeneous
Linear enhancement of the choroid beyond the
margins of the tumour should raise the possibility of
choroidal involvement, although inflammation may
lead to similar appearance
Enhancement of the anterior chamber need not
represent tumour involvement, with hyperaemia,
uveitis and iris neovascularisation all leading to
Careful assessment of the optic disc and optic nerve
should be carried out to assess for involvement
Extra-ocular extension through the sclera will be
visible as interruption of the otherwise hypointense
non-enhancing sclera by enhancing tumour
(1) Metastases to: meninges (via
space), bone marrow, lung,
liver, lymph nodes
(2) Radiation-induced sarcomas develop in
65% if significant, 24% if slight
Optic nerve invasion:
<10% if not invaded
15% if through lamina cribrosa
44% if significantly posterior to lamina cribrosa
Margin of resection not free of tumor: >65%
Retinal astrocytic hamartoma.
May occur in association with TS or NF or an isolated
May be bilateral multiple small retinal masses.
calcification may occur in the older child
• Coats disease
• Coats’ disease is a primary congenital, non-familial
idiopathic vascular anomaly of the retina. It is
characterised by telangiectatic, leaky retinal vessels that
lead to progressive retinal exudates. It usually occurs
in young males (70%) with an incidence peak at age 6–8
years. It is mostly unilateral (90%). Patients present with
leukocoria, strabismus or painful
Calcification is rare,allowing differentiation from RB.
CT shows homogeneous increased density within the
vitreous chamber,retinal detachment and lack of
enhancement after contrast administration.
The MRI findings are retinal detachment
without intraocular mass and high signal subretinal
effusion on both T1W and T2W MRI
Retinopathy of prematurity causes retro-lental
fibroplasia with the development of retrolental
Present usually with bilateral leucocorea at the age of
7-10weeks with a history of prematurity and oxygen
Persistent hyperplastic primary vitreous
is caused by the failure of the embryonic hyaloid
vascular system to regress normally and extensive
proliferation of embryonic connective tissue It is
characterised by a leukocoria in a microphthalmic
Small irregular lens with shallow anterior chamber.
If bilateral,PHPV may be part of the diagnosis of
Increased attenuation of vitreous with enhancement
of abnormal intravitreal tissue.
Triangular retrolental density with its apex on the
posterior lens and base on the posterior globe.
Toxocara canis infection
Sclerosing endophthalmitis is a granulomatous
chorioretinitis uveitis that develops secondary to a
Toxocara canis infestation, in more than 5 yrs age
Present with leucocorea----often bilateral.
It differs from RB by its central position, the fact that
it is hyperintense to vitreous on T2 weighted images,
the patient age and a positive serologic enzymelinked immunosorbent assay (ELISA).
CT demonstrate a hyperdense vitreous
cavity,sometimes with retinal detachment.No
enhancement is seen.
Rare X-linked recessive syndrome consisting of
retinal malformation, deafness and mental
retardation. Female carriers are completely healthy.
The ocular changes in male patients include retinal
detachments and vitreo-retinal haemorrhage
• Depends on tumour size and the stage of disease and
involves one or more modalities:
external-beam radiation therapy
radioactive plaque therapy
tumour reduction chemotherapy
en bloc resection
Photocoagulation (Laser Therapy)
The laser beam focuses on the
cancerous tumor, cuts off blood
supply to the tumor and shrinks it.
Depending on the size of the tumor,
chemotherapy may be needed for
larger tumors that cannot be shrunk
by just laser.
Cryotherapy (Freezing Treatment)
The tumor is frozen and thawed a
several times by a cold gas and it
deflates the tumor with no signs of a
tumor at all.
The tumor will leave a pigmented
scar and the eye lid will swell for a
couple of days.
After the extensive cycles of chemo,
the cancer cells are reduced,
therefore, shrinking of the tumor.
There are several cycles, and there is
a port necessary to draw blood, and
insert the drugs.
This is removal of the eyeball and the
tumor is extracted when no other
option is possible due to the size of
The whole eyeball is removed and it
causes permanent eye damage
because there is no way of an eye