17 patients from 10 families affected with VHL syndrome, particularly with retinal capillary hemangioblastomas (RCHs) were examined. 24-year-old woman (patient 1) from family 1 had her first retinal examination due to the detection of a cerebellar hemangioblastoma. Her vision was 20/20 in both eyes, but a peripheral retinal capillary hemangioblastoma (RCH) was present in the left eye. Laser was performed on the retina surrounding the lesion. During the follow-up, the tumor was stable in size and there was no development of RCHs in the right eye. Genomic DNA was extracted from whole blood for sanger sequencing of the VHL gene and multiplex ligation-dependent probe amplification was performed to identify genomic rearrangements. A novel frameshift P154Qfs4*(c.461delC) mutation was identified in exon 2 of the VHL gene. The parents of patient 1 were molecularly tested and neither possessed the mutation; thus, the mutation was identified as de novo. The parents nor the sister of patient 1 had VHL syndrome characterized by RCHs.