BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.

@article{Toto2016BESTROPHINOPATHYAS,
  title={BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.},
  author={Lisa Toto and Camiel J F Boon and Luca Di Antonio and Maurizio Battaglia Parodi and Rodolfo Mastropasqua and Ivana Antonucci and Liborio Stuppia and Leonardo Mastropasqua},
  journal={Retina},
  year={2016},
  volume={36 8},
  pages={
          1586-95
        }
}
PURPOSE To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. METHODS Clinical and genetic assessment was performed in five members of the same family. Molecular genetic analysis of the BEST1 gene was performed by direct sequencing. Extensive ophthalmic examination included color fundus imaging, spectral domain optical coherence tomography, fundus autofluorescence, electro-oculography (EOG), and full-field electroretinography (ERG). The main… CONTINUE READING
BETA
1
Twitter Mention

Citations

Publications citing this paper.
SHOWING 1-4 OF 4 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 26 REFERENCES

Similar Papers

Loading similar papers…