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Congenital Stationary Night Blindness (CSNB)

Breeds

General

Disease Name
Congenital Stationary Night Blindness (CSNB)
Disease Name 2
Hereditary Retinal Dystrophy
OMIA
1222
Gene Name
RPE65
Mutation
c.460_463delAAGA
OMIM
204100
Disease Code
CSNB
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
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)
Patents/ Licences
Patents: Optigen - US. (please note that patent and licensing laws and coverage vary by country)
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.
Published 2
Veske, A., Nilsson, S.E.G., Narfstrom, K., Gal, A.: Retinal dystrophy of Swedish briard briard-beagle dogs is due to a 4-bp deletion in RPE65 Genomics 57:57-61, 1999. Pubmed reference: 10191083. DOI: 10.1006/geno.1999.5754
Published 3
Klein, D., Mendes-Madeira, A., Schlegel, P., Rolling, F., Lorenz, B., Haverkamp, S., Stieger, K. : Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina. PLoS One 9:e86304, 2014. Pubmed reference: 24466015. DOI: 10.1371/journal.pone.0086304.
Published 4
Mowat, F.M., Gervais, K.J., Occelli, L.M., Annear, M.J., Querubin, J., Bainbridge, J.W., Smith, A.J., Ali, R.R., Petersen-Jones, S.M. : Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs. Invest Ophthalmol Vis Sci 58:3268-3277, 2017. Pubmed reference: 28662231. DOI: 10.1167/iovs.17-21930.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
Retinal pigment epithelium-specific 65 kDa protein
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