A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this mutation was found in a 1 patient, without retinal hemangioblastomas, but other manifestations are not clearly stated. No family information or relation was provided. Recorded in paper as c.386insCT, this mutation automaps to NM_000551.3:c.385_386dupCT (p.V130Wfs*30). This is possibly previously published in PMID: 15300849