Retinoblastoma is a rare 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. It 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.
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
- Crossed eyes (strabismus)
- Eye pain
- Eye redness
- Infection/inflammation around the eye
- Eyeball that is larger than normal
- Colored part of the eye (iris) and pupil look cloudy
- Poor vision
- Dilated pupil
- Other symptoms, such as a sudden decrease in eating or drinking
What Causes Retinoblastoma?
Retinoblastoma can be inherited and is caused by mutations in the RB1 gene which may be passed from parent to child, or changes can happen in the egg or sperm before or soon after conception.
Most cases of retinoblastoma are nonheritable, which means it is not inherited from the parents but instead is caused by mutations in the RB1 gene that occur by chance after birth.
How Is Retinoblastoma Diagnosed?
If there is a family history of retinoblastoma, regular eye exams should begin early in a child’s life to check for retinoblastoma, unless the child does not have the RB1 gene mutation. Early diagnosis can mean the child will need less intense treatment.
Retinoblastoma is diagnosed with a medical history and physical examination, along with an eye exam with a dilated pupil to allow the doctor to look at the inside of the eye.
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?
Six types of standard treatment are used for 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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https://www.cancer.gov/types/retinoblastoma/patient/retinoblastoma-treatment-pdq
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998401/
https://www.mskcc.org/sites/default/files/node/1211/documents/retinoblastoma_english_0.pdf