Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

@article{Sandberg2008DiseaseCI,
  title={Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.},
  author={Michael A. Sandberg and Bernard Rosner and Carol Weigel-Difranco and T. L. McGee and T. P. Dryja and Eliot L. Berson},
  journal={Investigative ophthalmology & visual science},
  year={2008},
  volume={49 12},
  pages={5532-9}
}
PURPOSE To estimate the mean rates of ocular function loss in patients with autosomal recessive retinitis pigmentosa due to USH2A mutations. METHODS In 125 patients with USH2A mutations, longitudinal regression was used to estimate mean rates of change in Snellen visual acuity, Goldmann visual field area (V4e white test light), and 30-Hz (cone) full-field electroretinogram amplitude. These rates were compared with those of previously studied cohorts with dominant retinitis pigmentosa due to… CONTINUE READING

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Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

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Identification of 51 novel exons on the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

E van Wijk, RJ Pennings, H te Brinke
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