Article
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Ophthalmic genetics - 1 Sept 2004
Silva Eduardo, Dharmaraj Sharola, Li Ying Ying, Pina Ana Luisa, Carter Robert Colin, Loyer Magali, Traboulsi Elias, Theodossiadis George, Koenekoop Robert, Sundin Olof, Maumenee Irene
Abstract excerpt
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree diagnosed with LCA and establish a genotype-phenotype correlation, we screened GUCY2D, RPE65, CRX, AIPL1, and RPGRIP1 for mutations. The more severely affected sibling carried a...
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