Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

@article{Mohamed2003ProgressionOP,
  title={Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.},
  author={Moin D Mohamed and Nicola C Topping and Hussain S Jafri and Y Raashed and Martin McKibbin and Chris F. Inglehearn},
  journal={The British journal of ophthalmology},
  year={2003},
  volume={87 4},
  pages={473-5}
}
BACKGROUND Leber's congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani… CONTINUE READING