genetics
Last reviewed 01/2018
Familial cases of retinoblastoma are autosomal dominant with 90% penetrance. The disrupted locus is on chromosome 13. Prenatal diagnosis is possible using linkage studies and restriction fragment length polymorphisms.
For sporadic unilateral cases, the risk to siblings is 1.6% and to offspring is 6%. Despite these relatively minimal odds, at-risk children should have regular ophthalmological screening until their mid-teens.