The genetics of retinoblastoma and current diagnostic testing

We review the genetics of retinoblastoma and the most recent molecular detection methods. Retinoblastoma, the most common intraocular tumor in children, occurs in either a heritable or non-heritable form. The heritable form, which is highly penetrant and predisposes individuals to a considerably greater second tumor risk, can be distinguished most definitively through the use of genetic testing. Genetic testing for individuals and families suspected of carrying the heritable mutations can help ensure that more comprehensive treatment plans and accurate genetic counseling for affected individuals and their families are provided.