Research on the Environment and Children's Health: Retinoblastoma

The purpose of the study is to investigate the role of paternal exposures in the etiology of sporadic heritable retinoblastoma (RBL). The study has a matched case-control design with a sample size of 255 pairs. Cases will be children with sporadic heritable (RBL) identified from eight hospitals that together treat most of the RBL patients in the U.S. and Canada. We will use regional controls matched on year of birth and state/province of residence identified by randomdigit-dialing (RDD). Fathers and mothers of cases and controls will be interviewed by telephone about their occupational, medical, dietary, and personal exposures before the index child's conception. Blood samples will be obtained on cases and their parents for DNA isolation. The case's DNA will be used to characterize the disease-causing RB1 mutation. The parent's DNA will be used to detect the few instances in which a parent also has the RB1 mutation, i.e., the child's RBL is familial rather than sporadic.

Inclusion criteria

• Cases will be children with sporadic heritable RBL, i.e., bilateral RBL without a family history of the disorder.
• Cases will be diagnosed with retinoblastoma in an approximately 7-year period, beginning January 1, 1998 and continuing until the sample size is reached.
• The case family must reside in the continental U.S., Alaska, or Canada.
• The case family must have a telephone in the household.
• The patient's physician must give permission to contact the parents of the case.
• The biologic father or mother of the case must be available and consent to be interviewed.
• The father or mother must speak English or Spanish.
• Genetic counseling regarding RB1 gene mutation analysis must be done prior to registration onto study.

Exclusion criteria

• Cases that do not meet the above criteria will be ineligible to participate and excluded from the study.