The Von Hippel-Lindau Syndrome Related Mutations in Patients with Retinal Capillary Hemangioblastoma

Purpose: Genotype –Phenotype correlation of Von Hippel Lindau Syndrome in a referral center in Iran.Methods: In this prospective observational case series, all patients with clinical manifestation of RCH associated with VHL syndrome and some first degree members of their families were enrolled. Genotype was evaluated using Sanger Sequencing and Multiple ligand Probe Amplification (MLPA) tests. Results: 49 cases (including 28 patients and 21 members of their families) were evaluated .Of those cases with VHL syndrome, 11 patients were men (39.3%) and 17 patients were women. Among 11 variants that were found , 72.2% of cases had point mutation and 27.3% of them had deletion(Exome 1 in one patient, Exome 2 in one patient and Exome 2 and 3 in other one had been deleted ). Patients with mutations were associated with poor visual outcomes, more malignancy in other organs (VHL manifestation) and more mortality rate in familial history. Conclusion: In our study, the severity of phenotype manifestations and clinical findings in patients with VHL Syndrome, were more prominent in patients with identified mutation and prognosis of visual outcome was worsein this group.