What is retinoblastoma?
Retinoblastoma is a cancer of the eye in children. It originates from
the retina, the light sensitive layer, in eye. It is the commonest eye
tumor of the eye in childhood. . This tumor may involve one (75% of
cases) or both (25% of cases) eyes in a child. Untreated, retinoblastoma
is almost always fatal, hence the importance of early diagnosis and
treatment
Is it hereditary?
Yes in some cases it may be hereditary. Majority of cases (90%) has no
family history of such disease; while a small percentage (10%) of newly
diagnosed cases have other family members with retinoblastoma.
Of all the cases of retinoblastoma, in 60% of cases it does not get
transmitted to the next generation, while in 40% of cases it may get
transmitted in the next generation. Therefore it is important to have a
genetic counseling before having a baby to determine the risk of another
child getting the same disease. Also, the siblings and children of the
patients with retinoblastoma should be examined periodically in their
childhood to detect any possible tumor early.
What are the symptoms of retinoblastoma?
As
the child does not complain of any poor vision, the tumor may remain
undetected. The most common way of presentation is a white reflex
(leukocoria) behind the pupil. This is sometimes called the cat's eye
reflex. There may be other causes of this white reflex as well, but an
evaluation by an ophthalmologist is a must in all these children to rule
out the possibility of this serious and potentially life threatening
disease.
It may also present as
squint (crossed eye),
poor vision, painful red eye,
inflammation of the tissue surrounding eye, protrusion of the eye ball
(proptosis) etc. Occasionally it is detected on a routine eye checkup by
an ophthalmologist, especially in a child with family history of this
disease.
How can it be
detected early?
The most common time of detection of this tumor is around one year of
age, when both eyes are involved; and around two years of age when only
one eye is involved. A periodic evaluation of the child by an
ophthalmologist, especially if there is a family history of this disease
may help in picking up the tumor early. Whenever the child is suspected
to have poor vision or if there are any of the above symptoms noted, an
ophthalmologist must be consulted.
To establish the diagnosis, the doctor may need to examine the child
under general anesthesia. A few special tests like ultrasonography, CT
scan, X-rays, MRI, blood tests, spinal tap, bone marrow biopsy etc. may
be done to establish the diagnosis and to find out the extent of the
disease.
If a child has been diagnosed to have retinoblastoma in
one eye, can he also develop the same disease in the other eye?
Yes. 25% of these tumors can affect both the eyes. The other eye must
also be evaluated thoroughly for the presence of any tumor. Also in a
few cases, the other eye may develop tumor a bit later. Therefore on the
follow up visits also, the other eye should be examined.
Is the child also at a risk for other diseases or
tumors?
Some of these children, especially those in which the tumor involves
both the eyes, are at a risk for developing other tumors like osteogenic
sarcoma (a cancerous tumor that affects the bone). The radiation therapy
for the tumor (external beam radiotherapy) increases this risk of other
tumors. Your ophthalmologist will discuss these issues with you.
My child has been diagnosed to have retinoblastoma.
Should I get my other children examined as well?
As we know, a few of these cases may be hereditary, therefore all the
siblings of the affected child must get an evaluation to rule out this
disease.
What are the chances that the next child to be born
would have the same disease?
These chances may range from as low as 1 in 15,000 to as high as 45%,
and depend upon many factors and like whether there is a family history
of such tumor, whether the tumor is involving both eyes etc. A genetic
counseling should be sought when planning for another baby. Similarly,
when a person with treated retinoblastoma plans to have a child, he or
she must also consult the doctor for genetic counseling.
Is it curable?
Yes. If detected at an early stage, the life and many times the sight
and the eye of the child may be saved. After removal of the tumor, the
chances of survival are very good in these children.
What are the treatment options?
The aim of treatment in retinoblastoma, in order of priority, is to
save the life, eye, sight and cosmesis of the child.
There are many treatment modalities for this tumor. These are:
As this is a difficult decision made
based on many factors, it is advised to discuss with the treating
ophthalmologist about the best treatment option for the concerned child.
All the advantages and disadvantages of each option must be weighed
before taking a decision. It is also important to discuss the
rehabilitation and the cosmetic correction after the surgery.
What is done if the child has tumor in both eyes?
In these cases, generally the worse eye is enucleated and the other eye
is tried to salvage by using other methods of treatment. However,
unfortunately in a few cases, both eyes may have to be removed.
Why is early detection important?
As mentioned earlier, the safer and less destructive procedures may be
taken when the tumor is in its early stage. By detecting and treating
the tumor early, we may save the life, sight and eye of the child.
What are the long-term consequences of retinoblastoma?
Even though retinoblastoma is a life threatening disease, it is rarely
a fatal one if treated appropriately. With the correct treatment in the
hands of an experienced ophthalmologist, the retinoblastoma patient has
a very good chance of living a long, full, and happy life.
It is very important to have a proper follow up with the treating
ophthalmologist for the eye tumor as well as for detection and treatment
of possible other tumors. The frequency of follow up depends upon the
type of tumor and the type of treatment given. Also in children with
only one eye left, extra care must be taken to avoid injuries to the
good eye.
