Article
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
The British journal of ophthalmology - 1 Apr 2003
Mohamed M D, Topping N C, Jafri H, Raashed Y, McKibbin M A, Inglehearn C F
Abstract excerpt
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...
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