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Variable Expressivity in Multifocal Best´s Disease with VMD2 Gene Mutation (T299>G) 1Frisch I. B., 2Weber B. H. F., 1Holz F. G.,
Purpose: Best´s disease (vitelliform macular dystrophie - VMD) is an autosomal dominant retinal dystrophy, caused by mutations in the VMD2 gene. Apart from the typical macular yellowish lesions, multiple discrete vitelliform lesions may occur. We characterized the phenotype in a family with multifocal Best´s disease and an identified mutation in the VMD2 gene. |
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