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Dog Congenital Stationary Night Blindness Briard Type(CSNB)
| Acronym: | CSNB |
| Gene: | RPE65 |
| Mutation: | c.460_463delAAGA |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog congenital stationary night blindness is an inherited eye disease, that affects Briards. It is characterized by slow progressive retinal degeneration with a very early onset of clinical symptoms. The retina is an important part of the eye that collects visual information and sends them to the brain. It is caused by a deletion in the RPE65 gene encoding a protein responsible for the regeneration of 11-cis-retinol in the visual cycle. The mutation is inherited recessively. Affected dogs show severe impairment of visual function, primarily of night vision, but, in some cases, day vision is affected to various degrees and abnormal electroretinogram. Heterozygous dogs have normal visual function and electroretinogram but are carriers of the desease allele. When two heterozygous dogs are bred, the chances of getting a puppy with the disease are high.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Andres Veske, S.E.G.N. (1999). Retinal Dystrophy of Swedish Briard/Briard–Beagle Dogs Is Due to a 4-bp Deletion inRPE65. Genomics 57, 57–61.
Bechyňová, R., Dostál, J., Stratil, A., Jílek, F., and Horák, P. (2008). Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: Application of a new detection method. Czech Journal of Animal Science 53, 176–179.