How Does Retinoblastoma Affect the Brain?

Reviewed on 3/18/2022

A baby getting their eyes checked for retinoblastoma

Retinoblastoma doesn’t directly affect the brain, but when tumors grow in the retina it inhibits the ability of the eye to properly communicate with the brain.

Retinoblastoma is a type of cancer in which abnormal cells form in the tissues of the retina, the light-sensitive layer of the eye that enables the eye to see. Retinoblastoma usually develops children younger than 2 years but it can occur at any age.

Retinoblastoma may occur in one eye (unilateral) or in both eyes (bilateral). Cavitary retinoblastoma is a rare type of retinoblastoma in which hollow spaces form within the tumor.

Retinoblastoma doesn’t directly affect the brain, but when tumors grow in the retina it inhibits the ability of the eye to properly communicate with the brain.

If retinoblastomas are not found and treated before they have spread outside the eyeball they can spread to other parts of the body. The cancerous cells can sometimes grow along the optic nerve and reach the brain. However, most retinoblastomas are found and treated before this can occur. 

Children who have heritable retinoblastoma also have an increased risk of a pineal tumor in the brain which can cause neurological symptoms. 

What Are Symptoms of Retinoblastoma?

Symptoms of retinoblastoma include:

  • Pupil that appears white instead of black or red when light shines into it
    • Parents may notice this in flash photographs of the child
  • Colored part of the eye (iris) and pupil look cloudy
  • Crossed eyes (strabismus)
  • Eye redness 
  • Infection/inflammation around the eye
  • Eye pain 
  • Eyeball that is larger than normal
  • Dilated pupil
  • Poor vision
  • Other symptoms, such as a sudden decrease in eating or drinking

How Is Retinoblastoma Diagnosed?

If there is a family history of retinoblastoma, regular eye exams beginning early in life to check for retinoblastoma are recommended, unless the child does not have the RB1 gene mutation. Early diagnosis can mean the child will need less intense treatment.

In addition to a medical history and physical examination, an eye exam with a dilated pupil is performed to allow the doctor to look at the inside of the eye. Anesthesia may be used in young children to allow the doctor to perform this examination. 

Eye exams that are done with the pupil dilated include: 

  • Ophthalmoscopy
  • Fluorescein angiography
  • Electroretinography
  • RB1 gene test: a sample of blood or tissue is tested for a change in the RB1 gene
  • Ultrasound exam of the eye
  • Magnetic resonance imaging (MRI)
  • A biopsy is usually not needed to diagnose retinoblastoma.

When retinoblastoma occurs in one eye, it can develop in the other eye and the unaffected eye should be examined until it is confirmed that the retinoblastoma is the nonheritable form.

What Is the Treatment for Retinoblastoma?

There are six types of standard treatment used in patients with retinoblastoma, including:

  • Cryotherapy (also called cryosurgery)
  • Thermotherapy
    • A type of laser surgery
  • Chemotherapy 
  • Radiation therapy
  • High-dose chemotherapy with stem cell rescue
  • Surgery (enucleation) 
  • Targeted therapy (being tested in clinical trials)
    • Oncolytic virus therapy


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Reviewed on 3/18/2022
Image Source: iStock Images