RETINOBLASTOMA
RETINAL CANCER
OPTOM. JAYEETA DANDAPAT
DEPT. OF OPTOMETRY
RETINOBLASTOMA
• It is a common congenital malignant tumour arising from the
neurosensory retina in one or both eyes.
• Though congenital, it is not recognised at birth, and is usually seen
between 1 and 2 years of age.
• It may be hereditary(40%) or non-hereditary(60%)
PATHOLOGY
• Origin
• It arises as malignant proliferation of the immature retinal neural cells
called, retinoblasts, which have lost both antioncogenic genes.
• Histopathology- Growth chiefly consists of small round cells with
large nuclei, resembling the cells of the nuclear layer of retina. These
cells may present as a highly undifferentiated or well-differentiated
tumour.
CLINICAL PICTURE
• Quiscent stage
• Glaucomatous stage
• Stage of extraocular extension
• Stage of distant metastasis
1. QUISCENT STAGE
It lasts for about 6 months to one year. During this stage, child
may have any of the following features
Leukocoria or yellowish-white pupillary reflex (also called as
amaurotic cat’s eye appearance) is the commonest feature
noticed in this stage.
Squint, usually convergent, may develop in some cases.
Nystagmus is a rare feature, noticed in bilateral cases.
Defective vision.-Very rarely, when the tumour arises late (3-
5 years of age), the child may complain of defective vision
OPHTHALMOSCOPIC FEATURES OF TUMOUR
• In the early stages, before the appearance of leukocoria, fundus
examination after full mydriasis may reveal the growth.
Ophthalmoscopic signs in two types of retinoblastoma are as
follows:
I. Endophytic retinoblastoma : It grows inwards from the retina
into the vitreous cavity. On ophthalmoscopic examination, the
tumour looks like a well circumscribed polypoidal mass of white
or pearly pink in colour. Fine blood vessels and sometimes a
haemorrhage may be present on its surface.
II. Exophytic retinoblastoma : It grows outwards and separates the
retina from the choroid. On fundus examination it gives
appearance of exudative retinal detachment.
2. GLAUCOMATOUS STAGE
• It develops when retinoblastoma is left untreated during the quiescent stage.
This stage is characterised by severe pain, redness, and watering.
Signs:
Eyeball is enlarged with apparent proptosis
conjunctiva is congested, cornea become hazy
intraocular pressure is raised
picture simulating severe, acute uveitis usually associated with pseudohypopyon
and/or hyphaema may be the presenting mode (retinoblastoma masquerading as
iridocyclitis).
3. STAGE OF EXTRAOCULAR EXTENSION
• Due to progressive enlargement, of tumor the
globe bursts through the sclera, usually near the
limbus or near the optic disc.
• It is followed by rapid fungation and involvement
of extraocular tissues resulting in marked
proptosis.
4. STAGE OF DISTANT METASTASIS.
• It is characterized by the involvement of distant structures as follows:
1. Lymphatic spread first occurs in the preauricular and neighboring
lymph nodes.
2. Direct extension by continuity to the optic nerve and brain is
common.
3. Metastasis by blood stream involves cranial and other bones.
Metastasis in other organs, usually the liver, is relatively rare
DIFFERENTIAL DIAGNOSIS
• Examination under anaesthesia: It should be performed in all clinically suspected
cases. It should include fundus examination of both eyes after full mydriasis with
atropine (direct as well as indirect ophthalmoscopy), measurement of intraocular
pressure and corneal diameter.
• Plain X-rays of orbit may show calcification which occurs in 75 percent cases of
retinoblastoma.
• Lactic dehydrogenase (LDH) level is raised in aqueous humour
• If your total LDH is higher than normal, it could mean that you have organ or tissue
damage.
• Ultrasonography and CT scanning are very useful in the diagnosis.
TREATMENT: TUMOUR DESTRUCTIVE THERAPY
• . When tumour is diagnosed at an early stage I i.e., when tumour is involving less than
half of retina and optic nerve is not involved (usually in the second eye of bilateral cases),
it may be treated conservatively by any one or more of the following tumour destructive
methods depending upon the size and location of the tumour:
Chemoreduction (Cryotherapy, thermochemotherapy or brachytherapy) is recommended
for large tumours (>12 mm in diameter)
Radiotherapy
Cryotherapy
Laser photocoagulation
Thermotherapy
TREATMENT: ENUCLEATION
When: to perforate the eyeball.
• Tumour involves more than half of If optic nerve shows invasion,
the retina. postoperative treatment should
• Optic nerve is involved. include:
• Radiotherapy
• Glaucoma is present and anterior
chamber is involved. • Chemotherapy
The eyeball should be enucleated
along with maximum length of the
optic nerve taking special care not
PROGNOSIS:
• 1. If untreated the prognosis is almost always bad and the
patient invariably dies. Rarely spontaneous regression with resultant
cure and shrinkage of the eyeball may occur due to necrosis followed
by calcification; suggesting role of some immunological phenomenon.
• 2. Prognosis is fair (survival rate 70-85%) if the eyeball is enucleated
before the occurrence of extraocular extension
• 3. Poor prognostic factors are: Optic nerve involvement,
undifferentiated tumour cells and CT Scan showing retinoblastoma.
massive choroidal invasion
RESEARCH
• A recent research paper on retinoblastoma was published in Eye in
2023. The study was an international global study on retinoblastoma
over 1.5 years and revealed 4351 new patients, with 85% from low-
and middle-income countries
• [Link]
