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Congenital Stationary Night Blindness (CSNB)

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Congenital Stationary Night Blindness (CSNB)
Mutation
c.460_463delAAGA
Test Type
Genetic Disease/Disorder
Details
Congenital Stationary Night Blindness (csnb) in Briards is an inherited disease caused by a defect in the gene RPE65. The symptoms include night blindness and a loss of vision in daylight that can vary between individual dogs. The disease shows an autosomal recessive mode of inheritance. The genetic defect underlying this condition was first identified in the Swedish population of Briards as a deletion of a small segment of the DNA within the gene for RPE65, a protein involved in the biochemistry of vision. (since also confirmed in UK populations of Briards)
Details 2
Congenital Stationary Night Blindness (csnb) in Briards is an inherited disease caused by a defect in the gene RPE65. The symptoms include night blindness and a loss of vision in daylight that can vary between individual dogs. The disease shows an autosomal recessive mode of inheritance. The genetic defect underlying this condition was first identified in the Swedish population of Briards as a deletion of a small segment of the DNA within the gene for RPE65, a protein involved in the biochemistry of vision. (since also confirmed in UK populations of Briards)
Published
Aguirre, G.D., Baldwin, V., Pearce-Kelling, S., Narfström, K., Ray, K., Acland, G.M. : Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4:23, 1998. Pubmed reference: 9808841.
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