[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

@article{Preising2007GeneticAC,
  title={[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].},
  author={M N Preising and Karina Paunescu and C Friedburg and Birgit Lorenz},
  journal={Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft},
  year={2007},
  volume={104 6},
  pages={490-8}
}
BACKGROUND Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood. METHODS In 135 families in a case series with severely reduced vision due to a retinal dystrophy in early childhood a complete ophthalmologic examination was extended by two-color threshold perimetry, fundus autofluorescence (FAF), und optical coherence tomography (OCT). Mutation screening included AIPL1, CRB1, CRX, GUCY2D, LRAT, RPE65, RPGRIP, and… CONTINUE READING