An important distinction for families affected by retinoblastoma is whether the disease is heritable or non-heritable.

60% of children with this disease have non-heritable retinoblastoma.  They have only one tumor and do not carry the cancer causing mutation in any other cells in their body. These children are at the same risk as the general population for developing other retinoblastoma tumors or other cancers later in life.

The 40% of children that have heritable retinoblastoma are most likely to have multiple tumors in one or both eyes, but may have only one tumor in one eye. Having heritable retinoblastoma means that these children carry the genetic mutation that triggered the tumor development in many cells of their body.  The mutation puts these children at an increased risk to develop other cancers later in life and they have a 50% chance of passing on the mutant retinoblastoma gene to their offspring.  Despite being commonly heritable, retinoblastoma is inherited from a parent in only 5% of new cases.

Because of the genetic implications for treatment, long term health, and family planning, genetic testing is vitally important for all families affected by retinoblastoma.

Genetic testing enables families affected by retinoblastoma to predict who in the family is at risk to develop the disease. Those who carry the genetic mutation can be monitored vigilantly so that tumors may be treated before they destroy vision or threaten life. Those who do not carry the mutation do not need to be further monitored and can be spared the invasive surveillance process and the inherent risks that accompany these procedures. For more information on genetic testing for retinoblastoma click here.