Age at onset of diagnosis varies from early childhood up through the eighth decade of life. Clinical testing should begin in early childhood with eye examinations of infants by an Ophthalmologist who, along with the Pediatrician, should be informed of VHL in the family's medical history. VHL tumors and cysts tend to be multiple and bilateral and vary widely in clinical severity. See the medical literature on VHL for detailed reports. VHL gene mutations that predispose to development of VHL tumors and cysts, are different from one family to another, and have been identified in many families tested.
Genetic counseling is obtained before genetic testing.
A number of different specialists may be required to care for patients with this challenging disease. If I can be of further assistance, please contact me. Gladys M. Glenn, M.D., Ph.D. National Institutes of Health, NCI Clinical Center, Bldg. Any Age Families are informed that if they choose they and their Genetic Counselor may contact Univ. of Pennsylvania Genetic Testing Lab for DNA testing of families whose genetic alteration is detectable. Before any type of surgery or childbirth procedures, rule out tumors of the adrenal gland called pheochromocytomas.