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Bo Hee Kim, Un Chul Park, Hyeong Gon Yu; Genotype-phenotype analysis of von Hippel-Lindau syndrome with retinal hemangioblastoma in Korean patients. Invest. Ophthalmol. Vis. Sci. 2018;59(9):4318. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Von Hippel-Lindau (VHL) syndrome is a genetic disorder with multisystemic tumor involvement caused by mutations in the VHL gene and demonstrates marked phenotypic variability. In this study, we aimed to analyze the VHL mutation spectrum and the effect of mutation types on clinical outcomes in VHL patients with retinal hemangioblastomas (RHB).
A total of 34 patients from 24 different families with clinically defined VHL syndrome and VHL mutations were recruited. Consequently, the presence of RHBs and ophthalmologic examination including visual acuities and the number of procedures on RHBs were evaluated. Statistical analysis was used to correlate the mutation type of VHL gene to ocular phenotype.
We identified 14 different VHL mutations. Two genotype categories, missense mutations and mutations leading to truncated proteins were defined. The most frequently observed mutation were c.208G > A (p.Glu70Lys) and c.304+5G > C (IVS1). There were not any significant differences in the prevalence and the bilaterality of RHB between the two mutation types. However, the mean visual acuity was significantly lower in patients with missense mutations than those with mutations of protein truncations (p = 0.043), while there was no significant difference in the number of therapeutic interventions on RHBs between the mutation types (p = 0.152).
The mutation types in the VHL gene may have an influence on the visual prognosis in affected patients. The genotype-phenotype correlation requires further investigations.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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