Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

@article{Gerth2008RetinalMI,
  title={Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography},
  author={Christina Gerth and Robert J. Zawadzki and John S. Werner and Elise Heon},
  journal={Vision Research},
  year={2008},
  volume={48},
  pages={392-399}
}
Retinal dystrophy in Bardet-Biedl Syndrome (BBS) is caused by defective genes that are expressed within ciliated cells such as photoreceptors. The purpose of this study was to characterize and compare the retinal structure and lamination of two groups of patients, carrying mutations in BBS1 or BBS10. Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested. A high-resolution hand-held probe Fourier-domain optical coherence tomography system (Fd-OCT… CONTINUE READING

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Ocular phenotype comparison between patients with Bardet–Biedl Syndrome with identified BBS1 and BBS10 mutations

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