CONE ROD DYSTROPHY

GUCY2D GENE ANALYSIS IN CONE ROD DYSTROPHY (TYPE 6)

Cone rod dystrophy (Type 6) is an autosomal dominant disorder characterized by early central visual loss progressing to peripheral visual loss later in life. Onset of the disease is usually before 7 years of age.

All variants identified to date in the autosomal dominant form affect codons 837 and 838 in exon 13 of the GUCY2D gene (Kelsell et al. 1998 Hum Mol Genet 7,7:1179-84; Weigell-Weber et al. 2000 Arch Ophthal 118,2:300; Kitiratschky et al. 2008 Invest Opthalmol Vis Sci 49,11:5015-23).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.