Retinoblastoma is
the most common intraocular cancer of childhood and affects
approximately 5000 - 8000 children in the world each year. More than
90% of children can be cured of retinoblastoma by early detection and
treatment of the affected eye. Unfortunately, some children can have
both eyes affected. Whenever possible, Dr. Shome tries to save a
child’s eye and preserve their vision.
Symptoms
Leukocoria (white pupil) and misaligned eyes (strabismus) are the most
common signs of retinoblastoma. In other cases, the child may have
developed neovascular glaucoma and may be in pain. Longstanding
glaucoma can cause enlargement of the eye (buphthalmos). Children with
neovascular glaucoma and enlargement of the eye are at greater risk for
extraocular spread of their retinoblastoma.
A family history of retinoblastoma can be very important.
Retinoblastoma was the first cancer to be directly associated with a
genetic abnormality (Deletions or mutation of the q14 band of
chromosome 13). Retinoblastoma can occur sporadically (without a family
history) or it can be inherited (with a family history).
If a genetic mutation is found there is a 45-50% chance that the
parents will have another child with retinoblastoma. If there is no
family history and no mutation is found, the risk of having a second
child with retinoblastoma is 2-5%. The average age of children first
diagnosed with retinoblastoma is 18 months.
Diagnosis
More than 75% of children with retinoblastoma are first noted to have a
“white-pupil” (which the doctors call leukocoria), or poorly aligned
eyes (which the doctors call strabismus), or a red and painful eye
(usually due to glaucoma). Other eye diseases which can cause these
symptoms include congenital cataract, Toxocara canis, Coat’s disease,
and persistent hypertrophic primary vitreous (PHPV). These diseases may
look like retinoblastoma, but by performing an examination under
anesthesia, specialized blood tests, digital photography, radiographic
scans, and ultrasound evaluations Dr. Shomeo can diagnose intraocular
retinoblastoma in over 95% of cases. In order to be 100% correct all
the time, Dr. Shome would have to perform a biopsy. Biopsies of
intraocular retinoblastoma are avoided in order to prevent cancer cells
from spreading outside of the eye.
The presence of orbital extension, uveal involvement, and optic nerve
invasion are known risk factors for the development of metastatic
retinoblastoma.
Treatments
Retinoblastoma treatment typically requires the cooperation of an
ophthalmic oncologist, pediatric oncologist, and radiation therapist.
Over the last 30 years, treatment has evolved from simple enucleation
(removal of the eye), to eye-sparing radiotherapy, and more recently to
chemotherapy-based multi-modality therapy (for selected cases).
Though retinoblastoma has been cured by external beam irradiation,
investigators have suggested that radiation may cause an increase in
the risk of developing second cancers later in life.
Protocols are currently being evaluated to use chemotherapy to shrink
the retinoblastoma in order to treat them with laser therapy, freezing
therapy (cryotherapy), and local “plaque” radiation. Where applicable,
these techniques are thought to be safer than external beam irradiation
for retinoblastoma. There is little long-term data on the safety of
this type of multi-modality chemotherapy.
Treatment of retinoblastoma often requires a team of doctors made up of
ophthalmic, radiation and pediatric oncologists. These doctors should
evaluate your child, discuss all the different forms of treatment, and
make them available. Dr. Shome has performed path-breaking work on the
treatment of retinoblastoma as well as better cosmesis for children in
whom the eye has had to be removed. While saving the eye is the attempt
in every child, it is also important to remember that in a child,
cosmesis and looking ‘normal’ in the vicinity of peers can be an
important part of sound development.
You can tell
many things from a child’s eye:
http://www.youtube.com/watch?v=dyTKlLpQFk8&feature=related
