"Retinoblastoma (reh-tin-oh-blas-TOE-mah) is a congenital (present at birth) malignant tumor of the retina. About 90% of retinoblastomas are found in children younger than 3 years old. It is very rare for the tumor to occur in persons over 6 years old. Almost 25% of retinoblastomas are genetic mutations (changes in the normal programming of the genes). In 6% of all cases, the tumor runs in families. Bilateral retinoblastoma (affecting both eyes) is inherited. Brothers and sisters of the affected child should be examined regularly by an ophthalmologist (eye doctor). Most unilateral (one eye) retinoblastoma occurs by chance. Healthy parents who have 1 child affected by the disease can expect a 6% chance that another child may also have retinoblastoma." (Helping Hands Pamphlet, Children's Hospital, Columbus, Ohio)
SIGNS AND SYMPTOMS OF RETINOBLASTOMA
Retinoblastoma is often found when a child develops strabismus (crossed eyes) and squinting. In about 60% of all cases, there is reflex know as "cat's eye reflex." A whitish "glow" in the eye is seen when light briefly falls on the tumor. Another symptom is a red, painful eye, and glaucoma.
DIAGNOSIS
Children suspected of having this disorder are referred to an ophthalmologist. Diagnosis is made by an ophthalmologist who examines the eye while the child is under general anesthesia. A urine specimen may be tested to measure the amount of vanillylmandelic acid (VMA) and homovanillic acid (HVA) present. VMA and HVA are substances which are secreted by some retinoblastomas. Ultrasound tests, CT scans, and X-rays are other tests that may be done to confirm the diagnosis. If the doctors suspect that the disease has spread to other parts of the body (metastasis), a bone marrow test, bone scan, and spinal tap may also be done.
TREATMENT
The ophthalmologist determines what treatment will be used. The size, location, and extension of the tumor within the eye, all make a difference in deciding what treatment is required. The treatment may be cryotherapy (a type of freezing of the tumor to destroy it) or possibly, removal of the eye (enucleation). If the tumor involves any part of the body other than the eye, an oncologist (cancer doctor) will also be involved. The oncologist will then determine further treatment. This treatment may include chemotherapy, and possibly radiation therapy.
FOLLOW-UP CARE
You will have follow-up appointments with a hematologist and ophthalmologist.
If necessary, your child will be fitted for a prosthesis (artificial eye).
Because retinoblastoma is sometimes inherited, your family is encouraged to get genetic counseling.
Examination and X-rays will be done from time to time to monitor your child's response to treatments.
If you have any question or concerns, be sure to talk with your doctor.
