Screening for retinoblastoma

Retinoblastoma can occur sporadically (or randomly), but at times it can also be associated with a genetic condition. Hereditary Retinoblastoma occurs when there is a change in the RB gene in a person’s DNA which increases the chance of developing retinoblastoma, along with other types of tumors including bone cancer, skin cancer or types of brain cancer. If a patient is known to have hereditary retinoblastoma or there is a family history of retinoblastoma, screening should begin prenatally or at birth and continue throughout a person’s life. Any pediatric patient with a family history of retinoblastoma will be seen by our Cancer Predisposition Program at Children’s Wisconsin for discussion and screening. Any adult patients with a personal or family history of retinoblastoma can be seen by our Hereditary Cancer Risk Clinic.

The sooner retinoblastoma is detected, the more effectively we can treat the disease. Children’s Wisconsin offers a wide range of screening options designed to detect retinoblastoma in its earliest stages.

Prenatal screening

For families with known history of retinoblastoma, there are different stages of intervention.

• Preimplantation testing - Preventing cancer is always better than having to overcome it. With preimplantation testing, parents who have been diagnosed with retinoblastoma can achieve a healthy pregnancy without risk of their newborn contracting the disease. Using in vitro fertilization (IVF), specialists conduct genetic testing to ensure that only unaffected embryos are transferred to the uterus.
• Early pregnancy testing - Testing for retinoblastoma is also effective in early stages of pregnancy. Early pregnancy testing using amniocentesis and chorionic villus biopsy can be used to detect the mutation in the fetus. This enables our specialized team to offer effective treatment before the baby is born.
• Late pregnancy testing - Starting 32 weeks of gestation, the fetus is monitored for tumors in the eye with ultrasound (figure below) and MRI and if tumor is detected early intervention is planned.

Retinoblastoma screenings for young children

In addition to prenatal testing, Children’s Wisconsin offers different retinoblastoma screening options for newborns and young children. If you or your child’s pediatrician suspect retinoblastoma, the ophthalmology team can accurately detect and diagnose the disease using a variety of proven methods, including blood tests, in-depth eye exams and high-resolution diagnostic imaging.

For families with history of retinoblastoma we also employ a non-invasive imaging tool called optical coherence tomography (OCT). This is a light-based test which takes special pictures of the back of the eye by imaging each layer of the retina (the tissue in the back of the eye). With the aid of the OCT, we are able to detect tumors that are not clinically visible yet. This enables us to commence treatment at a very early stage of the tumor enabling better vision prognosis and tumor control. These occult tumors (as highlighted by the red arrow below) cannot be detected by a clinical exam till they are much larger and by then they have affected the central vision.