[Best's disease with normal EOG. Case report of familial macular dystrophy].

@article{Pollack2005BestsDW,
  title={[Best's disease with normal EOG. Case report of familial macular dystrophy].},
  author={Katharina Pollack and Friedmar R. Kreuz and Lutz Ernst Pillunat},
  journal={Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft},
  year={2005},
  volume={102 9},
  pages={
          891-4
        }
}
Best's disease is an autosomal dominant disorder with incomplete penetrance and variable expression. A typical characteristic of Best's disease is a pathological EOG. We describe four members of a family with bilateral, subfoveal vitelliform lesions. The EOG was normal in all cases. Genetic analysis of the oldest son indicated a heterozygotic mutation Ala234Val in the VMD2 gene, so-called bestrophin gene, which is associated with Best's disease. Molecular genetic analysis also found Best's… CONTINUE READING
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