Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

@article{Lai2007GenotypePA,
  title={Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.},
  author={Timothy Y. Y. Lai and Tsz Kin Ng and Pancy O. S. Tam and Gary Hin Fai Yam and Jasmine W. S. Ngai and W. Q. Chan and David T. L. Liu and Dennis Shun Chiu Lam and Chi Pui Pang},
  journal={Investigative ophthalmology & visual science},
  year={2007},
  volume={48 11},
  pages={5212-20}
}
PURPOSE To evaluate the genotypic and phenotypic correlations of Bietti's crystalline dystrophy (BCD) in patients with the CYP4V2 gene by mutation screening and clinical and electrophysiological assessment. METHODS Eighteen Chinese patients in 13 families with BCD were recruited for full ophthalmic examinations, optical coherence tomography (OCT), and visual electrophysiological tests, including electrooculography (EOG), full-field electroretinography (ERG), and multifocal electroretinography… CONTINUE READING
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