Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

@article{Wabbels2006GenotypephenotypeCA,
  title={Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy},
  author={Bettina K Wabbels and M N Preising and Ulf Kretschmann and Anke Demmler and Birgit Lorenz},
  journal={Graefe's Archive for Clinical and Experimental Ophthalmology},
  year={2006},
  volume={244},
  pages={1453-1466}
}
Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin). Thirteen patients and seven possible carriers were characterised by mutation analysis with SSCPA and direct sequencing, clinical examination and fundus autofluorescence (AF). Electrophysiology (EOG and mfERG) and optical coherence tomography (OCT) were additionally performed whenever possible. We identified seven different heterozygous mutations in ten unrelated… CONTINUE READING