5 Things You Need to Know About Retinoblastoma

1. Understanding the Cause

Retinoblastoma is a childhood cancer that occurs in the eyes of young children. Sometimes one eye is affected (unilateral retinoblastoma) and sometimes both eyes are affected (bilateral retinoblastoma). This rare eye cancer, which originates in the retinal cells, occurs when there's a mutation in the RB1 tumor suppressor gene. Approximately 40% of these mutations are partially inherited from a parent. The other 60% of mutations occur completely spontaneously, without any inheritance. The cancer is most common in children ranging in age from newborn to five years old.

2. Knowing the Symptoms

There are various signs and symptoms of Retinoblastoma. Most commonly, a child presents with leukocoria, which is a white, yellow or pink light reflex, which appears when light is shined into the eye. Another common symptom of retinoblastoma is strabismus. This happens when the eye turns outward toward the ear (extoropia) or inward toward the other eye (esotropia). Other symptoms include vision difficulty, eye pain, redness of the eye and a dilated pupil that doesn't contract after exposure to light.

3. Visiting the Doctor

Frequently, parents are the first to recognize that something is wrong with their child's eye or eyes. An ophthalmologist, specializing in cancer of the eye, makes the final diagnosis. After dilating the eye, the ophthalmologist does a thorough examination of the eye. The use of anesthesia is common if the child is young or unable to remain quiet during the procedure. Doctors request tests, such as ultrasound, CT scan, MRI, bone marrow biopsy, and spinal tap to determine the size of the tumor and extent of metastasis. Results from these tests allow the ophthalmologist and pediatric oncologist to determine what stage the cancer has reached. Staging is imperative for selection of an appropriate treatment plan.

4. Catching it Early

When caught early, retinoblastoma has a high rate of survival. Approximately 95% of children diagnosed in the United Sates survive. Proper treatment is integral to survival. This treatment is multifaceted. Often, the first step is a surgical procedure known as enucleation. This procedure involves removal of the affected eye. Other treatments include external radiation, internal radiation, laser therapy, cryotherapy and chemotherapy. A doctor's first priority is saving the life of the patient. Preserving the child's vision and appearance are lower priorities.

5. Extra Precautions

Children who inherited retinoblastoma are at greater risk for developing other types of cancer throughout life. These cancers include osteosarcoma, soft tissue sarcoma and malignant melanoma. Survivors of retinoblastoma should follow up regularly with the ophthalmologist and pediatric oncologist. If eye removal was necessary, then the child should take extra precautions throughout life to preserve the healthy eye. Lastly, an ocularist can fit the child for a proper prosthesis.