14 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing using single-strand conformation polymorphism (SSCP) was conducted and aberrant bands were purified and sequenced. 2 families were discussed with the same mutation, a c.529A>T stop mutation in the VHL gene (stated as c.742A>T in the paper which used the Latif sequence as reference). Patient 10, belonging to family VI presented with CNS hemangioblastomas and retinal capillary hemangioma. No family information was discussed. Patient 11, belonging to family VII presented with CNS hemangioblastomas and died at 28 from a pancreatic tumor. No family information was discussed for this patient either.