Visual improvement in Leber congenital amaurosis and the CRX genotype.

@article{Koenekoop2002VisualII,
  title={Visual improvement in Leber congenital amaurosis and the CRX genotype.},
  author={Robert Koenekoop and Magali Loyer and Olga Dembinska and Raquel G Beneish},
  journal={Ophthalmic genetics},
  year={2002},
  volume={23 1},
  pages={49-59}
}
PURPOSE In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years. METHODS Best-corrected Snellen visual acuities, electroretinograms (ERGs), and Goldmann visual fields were measured, while SSCP and direct sequencing were done for… CONTINUE READING

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