%0 Journal Article
%T A study of candidate genes for day blindness in the standard wire haired dachshund
%A Anne Wiik
%A Ernst-Otto Ropstad
%A Ellen Bjerk£¿s
%A Frode Lingaas
%J BMC Veterinary Research
%D 2008
%I BioMed Central
%R 10.1186/1746-6148-4-23
%X Three of the genes, CNGB3, CNGA3 and GNAT2, involved in cone degeneration and seven genes and loci, ABCA4, RDH5, CORD8, CORD9, RPGRIP1, GUCY2D and CRX, reported to be involved in cone-rod dystrophies were studied. Polymorphic markers at each of the candidate loci were studied in a family with 36 informative offspring. The study revealed a high frequency of recombinations between the candidate marker alleles and the disease.Since all of the markers were at the exact position of the candidate loci, and several recombinations were detected for each of the loci, all ten genes were excluded as causal for this canine, early onset cone-rod dystrophy. The described markers may, however, be useful to screen other canine resource families segregating eye diseases for association to the ten genes.Inherited retinal degenerations form a diverse spectrum of blinding disorders in humans and other mammals, including a large number of dog breeds [1]. Retinal diseases are inherited as monogenic or complex traits. In the last two decades over 130 genes that cause retinal diseases have been identified [2].Progressive retinal atrophies (PRA) are the most common retinopathies in dogs and constitute a heterogeneous group of phenotypically similar disorders equivalent to retinitis pigmentosa (RP) in man. PRA, like RP, is primarily a disease of rod photoreceptors, while cone function and structure degenerate secondarily. PRA has been identified and studied in more than 100 breeds and distinct loci primarily responsible for each disorder have been identified in at least 22 different breeds [1,3].The cone dystrophies comprise a phenotypically heterogeneous group of hereditary retinal degenerations characterized by progressive dysfunction of the photopic (cone-mediated) system. The presenting signs include day blindness, loss of colour vision, reduced central visual acuity and preserved peripheral vision [4]. The cone dystrophies are genetically heterogenous and may be sporadic, autosomal domi
%U http://www.biomedcentral.com/1746-6148/4/23