Bilateral retinoblastoma

Bilateral Retinoblastoma is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children.

Etiology

Bilateral retinoblastoma is caused by mutations in the RB1 gene. This gene provides instructions for making a protein that helps control cell growth. Mutations in the RB1 gene lead to a protein that is not functional, which allows cells to grow and divide uncontrollably and form a cancerous tumor.

Symptoms

The most common symptom of bilateral retinoblastoma is a noticeable whiteness in the pupil called leukocoria. Other symptoms can include strabismus (crossed eyes), redness or swelling of the eye, and poor vision.

Diagnosis

Diagnosis of bilateral retinoblastoma is made through a thorough examination of the eye, often under anesthesia. This can include an ultrasound of the eye, a MRI scan, and a lumbar puncture to check for spread of the cancer.

Treatment

Treatment for bilateral retinoblastoma can include chemotherapy, radiation therapy, laser therapy, cryotherapy, or surgery to remove the eye (known as enucleation).

Prognosis

The prognosis for bilateral retinoblastoma is generally good, with a survival rate of over 90%. However, children with bilateral retinoblastoma have a higher risk of developing other types of cancers later in life.

See also

• Unilateral retinoblastoma
• Pediatric oncology
• Genetic counseling