RetinoblastomaRetinoblastoma has a history dating back to

1597. 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 Retinoblastoma. 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 identified. In one of Kudsten’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 Chr No-13 that has been mutated.

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This disease is very curable if found quickly, but the group of

people mostly effected by retinoblastoma are to be the infants

to 6 year-olds age group. If not noticed at an early stage, the

cancerous tumor can spread to other parts of the body.

Cause. The causes of retinoblastoma are mostly genetic with the

exception of a rare case of a new case mutation. In fact,

the children of a person with the illness has a 50%

chance of inheriting the disorder whole disease of

retinoblastoma is caused by a mutation that occurs

because of a cell in the retina that is duplicating

numerously and therefore turning cancerous. The

retinoblastoma gene copies in a autosomal dominant

pattern, the child will have 50% chance of inheriting

retinoblastoma. Even if the gene is given to a child, it

does not necessarily mean that cancer is for sure. As

shown in the punnett square (Figure 3), there is a 50%

chance of retinoblastoma assuming the heterozygous is

the retinoblastoma gene.

A a

a Aa aa

a Aa aa

Figure 3

DiagnosisIf you have retinoblastoma, your Ophthalmologist

might do several different procedures that are

normally done at any regular check-up. One of

the regular procedures is the checking of the eye

for dilation of the pupil. Even looking at an eye,

you can tell that retinoblastoma is present. The

eye will have a yellowish look and appear to be

glazed (Figure 1). Some more complex

methods of telling, is with a CT scan or even an

ultrasound would be appropriate. The tumor can

vary in sizes and in fact the size of the tumor will

determine what kind of treatment will be used to

rid of the tumor (figure 2).

Figure 1

Figure 2

Signs/Symptoms• Poor vision – When retinoblastoma is present, the vision clearness

decreases because of the tumor clouding the eye.

• Instead of a typical “red” eye in photographs, the eye will appear white –

Again, the tumor will switch the iris color and have it appear white in a

glazed fashion.

• Strabismus – also known as a wandering eye or cross eyes where the eyes

appear to be looking around in different directions.

• Red eye – due to irritation of the eyes

• White spots – There will be white spots that will be floating around the pupil.

TreatmentAdvantages Disadvantages

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.

Chemotherapy 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.

Enucleation This is removal of the eyeball and the tumor is extracted when no other option is possible due to the size of the tumor.

The whole eyeball is removed and it causes permanent eye damage because there is no way of an eye transplant.

TreatmentAdvantages Disadvantages

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.

Chemotherapy 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.

Enucleation This is removal of the eyeball and the tumor is extracted when no other option is possible due to the size of the tumor.

The whole eyeball is removed and it causes permanent eye damage because there is no way of an eye transplant.