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Retinoblastoma

Retinoblastoma is a rare primary eye cancer of the retina that most commonly affects infants and young children.

Symptoms

Symptoms of retinoblastoma include:

  • White pupillary reflex (leukocoria), an abnormal white reflection from the retina
  • Lazy eye
  • Poor vision
  • In rare instances, retinoblastoma can present as an inflammation of the eye.

Causes

Retinoblastoma is caused by a gene mutation during cell division. In half of all retinoblastoma cases, there is no family history of eye cancer. However, if the gene mutation does run in the family, a child’s chances of developing retinoblastoma increase substantially.

In most cases, diagnosed children are age 5 or younger, but retinoblastoma can occur as early as year 1. 

Risk factors

The greatest risk factor for retinoblastoma is having a first-degree relative having had the disease.

Complications

The life prognosis for retinoblastoma patients is usually good if the cancer has not spread to other parts of the body. Vision prognosis depends on the extent of the involvement in the eye and the location of the tumor.  

Diagnostic tests

Diagnostic tests include:

  • Ultrasonography (ultrasound)
  • Photos to document the tumor size, location, and response to treatment
  • Neuroimaging (MRI scanning) to evaluate whether there is involvement of the central nervous system

Often, diagnostic tests will be performed with the child sedated by anesthesia.

Treatment and drugs

Depending on the severity of the retinoblastoma, treatments may include:

  • Photocoagulation (laser therapy)
  • Radiation
  • Chemotherapy
  • Cryotherapy (freezing the cancer cells to kill them)

When the cancer is severe enough and there is no chance of saving the vision, the eyeball may be removed (enucleation) and replaced with a small implant. This treatment is used in extreme cases when no other methods will work.

Prevention

There is no prevention for developing retinoblastoma. If there is a known family history of retinoblastoma, it is important to properly screen infants for this condition.