Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

@article{Renner2009PhenotypicVA,
  title={Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.},
  author={Agnes B. Renner and Britta S. Fiebig and Bernhard H F Weber and Bernd Wissinger and Sten O. L. Andreasson and Andreas Gal and Elke Cropp and Susanne Kohl and Ulrich Kellner},
  journal={American journal of ophthalmology},
  year={2009},
  volume={147 3},
  pages={518-530.e1}
}
PURPOSE To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations. DESIGN Retrospective study. METHODS Clinical examinations included color vision testing, perimetry, fundus autofluorescence (FAF), fluorescein angiography, optical coherence tomography (OCT), and full-field and multifocal electroretinography (International Society for Clinical Electrophysiology of Vision standards). Blood samples were taken for deoxyribonucleic acid… CONTINUE READING
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