Hereditary retinoblastoma

Hereditary retinoblastoma is a type of eye cancer that develops in the retina, the light-sensitive tissue at the back of the eye. It is caused by an inherited change (mutation) in the RB1 gene, which normally acts as a tumor suppressor — meaning it helps prevent cells from growing out of control. When a child inherits a faulty copy of this gene from a parent, every cell in their body carries that mutation, making them much more likely to develop tumors in one or both eyes, usually before the age of five. The most common early sign is a white glow in the pupil of the eye, often noticed in photographs taken with a flash. This is sometimes called "cat's eye reflex" or leukocoria. Other signs include crossed eyes (strabismus), redness, swelling, or vision problems. Because the mutation is present in all cells, children with hereditary retinoblastoma often develop tumors in both eyes and may also be at increased risk for other cancers later in life, such as bone cancer (osteosarcoma) or soft tissue sarcomas. Treatment depends on the size and location of the tumors and whether one or both eyes are affected. Options include chemotherapy (given through a vein, directly into the eye, or into the artery feeding the eye), laser therapy, cryotherapy (freezing treatment), radiation therapy, and in some cases surgical removal of the eye (enucleation). With early detection and modern treatments, survival rates are very high — over 95% in developed countries. Lifelong monitoring is essential because of the risk of new tumors and second cancers.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What is the exact RB1 mutation in my child, and should other family members be tested?,What treatment plan do you recommend, and what are the chances of saving my child's vision?,How often will my child need eye exams under anesthesia, and for how long?,What is my child's risk of developing second cancers, and what screening should be done throughout their life?,Are there clinical trials or newer treatments available that might benefit my child?,What support services are available for our family, including genetic counseling and psychological support?,If we plan to have more children, what are the chances they will also have this condition, and what prenatal testing options exist?

Common questions about Hereditary retinoblastoma

Related conditions

Other rare diseases commonly researched alongside Hereditary retinoblastoma.

• Li-Fraumeni syndrome→
• Osteosarcoma→