Retinoblastoma is a rare primary eye cancer of the retina that most commonly affects infants and young children.
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.
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, children diagnosed with retinoblastoma are age 5 or younger, and it can occur as early as year 1.
The greatest risk factor for retinoblastoma is having a first-degree relative having had the disease.
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 prognosis
Depending on the severity of the retinoblastoma, treatments may include:
- Photocoagulation (laser therapy)
- Cryotherapy (freezing the cancer cells to kill them)
When the cancer is severe enough and there is no chance of saving vision, the eyeball may be removed (enucleation) and replaced with a small implant. This treatment is used in extreme cases when no other methods work.