1. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1

    Purpose: To analyze retinal structure and function in vitelliform macular dystrophy (VMD) due to mutations in BEST1. Methods: Patients from five Swedish and four Danish families were examined with electrooculography (EOG), full-field electroretinography (ffERG), multifocal ERG (mfERG), optical coherence tomography (OCT) and fundus autofluorescence photography (FAF). Genetic analysis of the BEST1 gene was performed by direct sequencing. Results: Mutations in BEST1 have been reported previously in the Swedish families. In the Danish families, four disease-causing missense mutations were found, one of which is novel; c.936C>A (p.Asp312Glu). The mutation was homozygous in a nine-year old boy and heterozygous ...
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