Advances in Experimental Medicine and Biology, 2008, Volume 613, Part V, 229-234, DOI: 10.1007/978-0-387-74904-4_26

Mutation in the PYK2-Binding Domain of PITPNM3 Causes Autosomal Dominant Cone Dystrophy (CORD5) in Two Swedish Families

Linda Köhn, Konstantin Kadzhaev, Marie S.I. Burstedt, Susann Haraldsson, Ola Sandgren and Irina Golovleva

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Abstract

Progressive cone or cone-rod dystrophies (CORDs) characterized by a defective cone function demonstrate abnormalities in cone-mediated electroretinogram (ERG) components. The presenting symptoms are defective color vision, impaired central visual acuity and sensitivity to light (Small and Gehrs, 1996; van Ghelue et al., 2000). The inheritance patterns for CORDs are autosomal dominant, autosomal recessive and X-linked (Michaelides et al., 2005a). The preservation of rod function in CORDs can differ both between and within families and depends on the disease causing mutation within a gene (Small and Gehrs, 1996; Michaelides et al., 2005b).

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