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Phenotype: An inability to see in low light / dark conditions from birth. Signs of CSNB may include apprehension of unfamiliar places in low light conditions, having trouble finding feed or water buckets at night, or getting injured at night.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, CSNB2 = Congenital stationary night blindness variant
Breeds appropriate for testing: Tennessee Walking Horse
Explanation of results:
- Horses with the N/N genotype do not have the genetic variant causing congenital stationary night blindness and cannot transmit the variant to any of their offspring.
- Horses with the N/CSNB2 genotype carry one copy. They will have normal vison but are predicted to transmit the variant to 50% of their offspring, and if mated to another carrier, there is a 25% chance the foal will have CSNB.
- Horses with the CSNB2/CSNB2 genotype have two copies of the genetic variant associated with congenital stationary night blindness and are likely night blind. Examination by a veterinary ophthalmologist is recommended. All offspring produced in matings with this genotype will have at least one copy of the variant.
Congenital stationary night blindness (CSNB) is an inherited condition in which affected individuals are unable to see in low light or dark conditions. Horses with CSNB are born with this condition, and it is non-progressive (it does not get worse with age). Some typical signs of CSNB include apprehension to enter unfamiliar places in dark conditions, having trouble finding feed or water buckets at night, or getting injured at night. Oftentimes CSNB in horses is undetected by the handler or owner. CSNB is definitively diagnosed by a dark-adapted electroretinography (ERG) test conducted by a veterinary ophthalmologist.
Similar to what is known in humans and other animals, there are likely several different genes that contribute to this disease in horses, and these genes are likely breed-specific. For example, horses homozygous for the variant that causes leopard complex spotting in Appaloosas and related breeds are night blind. However, other breeds without this white spotting pattern (e.g. Thoroughbred, Paso Fino, and Tennessee Walking Horse) have also been reported to have CSNB, and thus variants in different genes likely explain CSNB in these other breeds.
Researchers from the VGL's equine genetic research team (including Dr. Bellone and her undergraduate intern Izzie Hack) teamed up with equine ophthalmologist Dr. Brian Gilger and his residents, Drs. Oh and Crabtree, from North Carolina State to investigate the genetics of this disease in Tennessee Walking Horses. In 2019, a case study involving a night blind Tennessee Walking Horse identified a variant in a gene with a pivotal role in cell signaling low light vision conditions. This identified variant is therefore suspected to cause CSNB in this breed.
The variant follows a recessive mode of inheritance, meaning that only horses with two copies of the variant are affected. Based on population screening, it is estimated that one in a hundred Tennessee Walking Horses are homozygous for this variant and thus likely night blind. Genetic testing for this variant can help to identify these horses. Horses homozygous for this variant should be evaluated by a veterinary ophthalmologist to confirm diagnosis and discuss management strategies. Testing can now be performed to also identify horses with the variant and avoid matings between carriers, which could produce affected foals.
The scientific study describing the identification of the genetic variant for CSNB in the Tennessee Walking Horse is available here. Additionally, the research team is actively investigating additional affected horses to confirm the role of this variant in CSNB in the Tennessee Walking Horse and potentially other breeds. If you are interested in participating in these studies, please e-mail our research team at firstname.lastname@example.org. As these studies progress, additional information will be available here.
Type of Test
|Test Result||Congenital Stationary Night Blindness|
Normal. Horse does not have the CSNB2 variant.
Horse is a carrier of the CSNB2 variant, but will not show symptoms of night blindness.
Horse has two copies of the CSNB2 variant and is likely night blind.