Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

@article{Valverde2009ComplexityOP,
  title={Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.},
  author={Diana Valverde and I Rodriguez Pereiro and E Vela Vallespin and Carmen Ayuso and Salud Borrego and Montserrat Baiget},
  journal={Investigative ophthalmology & visual science},
  year={2009},
  volume={50 3},
  pages={1065-8}
}
PURPOSE Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the synthetic pathway of the visual chromophore 11-cis-retinal, therefore resulting in early and progressive retinal degeneration (RD). Mutations in this gene have been related to autosomal recessive Leber congenital amaurosis (LCA) and to a form of autosomal recessive childhood-onset severe retinal dystrophy (CSRD). This study was… CONTINUE READING