- Retinoblastoma is a type of eye 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 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.
- Though rare overall, retinoblastoma is the seventh-most common childhood cancer. It usually develops children younger than 2 years but it can occur at any age.
- Retinoblastoma can be life-threatening, but when caught early it can usually be successfully treated. Fewer than 5% of children die as a result of the condition in high-income countries such as the U.S., due to early diagnosis and treatment from specialists.
- Worldwide, up to 50% of retinoblastoma patients will die each year. In low-income places such as Africa, it is not uncommon for up to 70% of children with retinoblastoma to die, usually because the disease is diagnosed too late.
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)
- Colored part of the eye (iris) and pupil look cloudy
- Eye pain
- Eye redness
- Infection/inflammation around the eye
- Eyeball is larger than normal
- 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.
However, 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 randomly after birth.How Is Retinoblastoma Diagnosed?
If there is a family history of retinoblastoma, a child should have regular eye exams beginning early in 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.
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?
Six types of standard treatment are used for patients with retinoblastoma, including:
- Cryotherapy (also called cryosurgery)
- Thermotherapy
- A type of laser surgery
- Chemotherapy
- Systemic chemotherapy
- Regional chemotherapy
- Ophthalmic artery infusion chemotherapy
- Intravitreal chemotherapy
- Intrathecal chemotherapy
- Radiation therapy
- External-beam radiation therapy
- Intensity-modulated radiation therapy (IMRT)
- Proton beam radiation therapy
- Internal radiation therapy
- Plaque radiotherapy
- External-beam 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