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Congenital Stationary Night Blindness (CSNB)
Breed: Briard
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
General
Disease Name
Congenital Stationary Night Blindness (CSNB)
OMIA
1222
Gene Name
RPE65
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)
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
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Briard
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Animal Genetics Laboratory, SLU
GTP
GTP Name
Animal Genetics Laboratory SLU
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
FCI Number
113
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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:
Application in the Breed
Carriers may be bred to normal animals (N/csnb x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/csnb x N/csnb) nor of affected animals (csnb/csnb). Difficulty seeing in low lighting, and may progress into difficulties seeing in normal daylight
Inheritance
AR
FCI Number
113
GTP Breed
Briard
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 supe
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
113
GTP Breed
Briard
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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:
Application in the Breed
Carriers may be bred to normal animals (N/csnb x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/csnb x N/csnb) nor of affected animals (csnb/csnb). Difficulty seeing in low lighting, and may progress into difficulties seeing in normal daylight
Inheritance
AR
FCI Number
113
GTP Breed
Briard
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463del
Mutation Comment
g.76893207_76893210del
Nature of test
mutation test
FCI Number
113
GTP Breed
Briard
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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:
Application in the Breed
Carriers may be bred to normal animals (N/csnb x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/csnb x N/csnb) nor of affected animals (csnb/csnb). Difficulty seeing in low lighting, and may progress into difficulties seeing in normal daylight
Inheritance
AR
FCI Number
113
GTP Breed
Briard
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 supe
Inheritance
AR
FCI Number
113
GTP Breed
Briard
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Nature of test
mutation test
FCI Number
113
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Leber Congenital amaurosis, retinal pigment epithelial dystrophy
Gene Name
RPE65
Mutation
c.460_463delAAGA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RPE65
Mutation
c.460_463delAAGA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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