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Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0*96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1-89/100 000 (1/53 000) persons with an estimated birth incidence of 2-73/100 000 (1/36 000) live births. Reproductive fitness was 0-83. Direct and indirect estimates of the mutation rate were 4-4 (95% CI 0-9 to 7-9)x ie/gene/generation and 2*32x 10t6/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.Von Hippel-Lindau disease (McKusick 19330) is an inherited cancer syndrome with variable expression. The most frequent complications are haemangioblastomas of the retina and central nervous system, renal cell carcinoma, phaeochromocytoma, and renal, pancreatic, and epididymal cysts. '-Following early

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