A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis

Abstract

Cone–rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss of peripheral vision in adolescence or early adult life. Both genetic and clinical heterogeneity are well known. In a family with autosomal… (More)
DOI: 10.1038/ejhg.2010.81

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@article{Iseri2010ANR, title={A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis}, author={Sibel Aylin Ugur Iseri and Yusuf Kemal Durlu and Aslihan Tolun}, journal={European Journal of Human Genetics}, year={2010}, volume={18}, pages={1121-1126} }