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C.C. W. Klaver, J.C. Booij, J.B. ten Brink, P.T. V. M. de Jong, M.J. van Schooneveld, A.B. B. Bergen; Does VMD2 Genotype Predict Visual Outcome in Patients With Best Vitelliform Dystrophy? . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1636.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To determine whether the VMD2 genotype is associated with visual function and visual prognosis in patients with Best vitelliform dystrophy. Methods: Clinical records from 67 patients derived from 16 Dutch families were evaluated. We assessed visual acuity and phenotypic appearance at various ages. DNA from venous punctures was isolated according to standard protocols, and mutations in the VMD2 gene were detected by DHPLC and direct sequencing. Results: Five different mutations were found in the examined families. The families with the same mutation showed large differences in visual acuity and visual decline. We observed a great variability in members of the same family as well. Conclusions: VMD2 mutations do not predict visual outcome in our study. Other factors appear to play a role.
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