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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Krämer, F. ; White, K. ; Pauleikhoff, D. ; Gehrig, A. ; Passmore, L. ; Rivera, A. ; Rudolph, G. ; Kellner, U. ; Andrassi, M. ; Lorenz, B. ; Rohrschneider, K. ; Blankenagel, A. ; Jurklies, B. ; Schilling, H. ; Schütt, F. ; Holz, F. G. ; Weber, Bernhard H. F.


Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis ...


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