Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse.
Abstract: To determine if congenital stationary night blindness (CSNB) exists in the Miniature Horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the Miniature Horse is associated with three single nucleotide polymorphisms (SNPs) in the region of TRPM1 that are highly associated with CSNB and LP in Appaloosas. Methods: Three groups of Miniature Horses were studied based on coat patterns suggestive of LP/LP (n=3), LP/lp (n=4), and lp/lp genotype (n=4). Methods: Horses were categorized based on phenotype as well as pedigree analysis as LP/LP, LP/lp, and lp/lp. Neurophthalmic examination, slit-lamp biomicroscopy, indirect ophthalmoscopy, and scotopic flash electroretinography were performed on all horses. Hair samples were processed for DNA analysis. Three SNPs identified and associated with LP and CSNB in the Appaloosa were investigated for association with LP and CSNB in these Miniature Horses. Results: All horses in the LP/LP group were affected by CSNB, while none in the LP/lp or lp/lp groups were affected. All three SNPs were completely associated with LP genotype (χ(2) = 22, P << 0.0005) and CSNB status (χ(2) =11, P<0.0005). Conclusions: The Miniature Horse breed is affected by CSNB and it appears to be associated with LP as in the Appaloosa breed. The SNPs tested could be used as a DNA test for CSNB until the causative mutation is determined.
© 2011 American College of Veterinary Ophthalmologists.
Publication Date: 2011-04-19 PubMed ID: 22051042DOI: 10.1111/j.1463-5224.2011.00903.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research article is a study on Miniature Horses to determine if the horses experience congenital stationary night blindness (CSNB) in association with a certain coat pattern known as the leopard complex spotting patterns (LP). It further investigates if this blindness is associated with three genetic variants identified previously in the Appaloosa breed.
Research Methodology
- The study was conducted on three groups of Miniature Horses, each differentiated by their coat patterns – LP/LP, LP/lp, and lp/lp.
- The horses underwent a comprehensive evaluation which involved a neurophthalmic examination, a type of eye examination to assess neurological function, slit-lamp biomicroscopy, a procedure used to examine the eye, indirect ophthalmoscopy, an examination of the interior of the eyeball, and scotopic flash electroretinography, a test used to measure the electrical responses of various cell types in the retina.
- Hair samples were collected from the horses for DNA analysis to identify the presence of three specific Single Nucleotide Polymorphisms (SNPs), which have been associated with LP and CSNB in the Appaloosa breed.
Research Findings
- Interesting findings from the study showed that all the Miniature Horses with the LP/LP coat pattern were affected by Congenital Stationary Night Blindness. Conversely, horses with the LP/lp or lp/lp coat patterns did not exhibit night blindness.
- The presence of the three SNPs in the Miniature Horses was found to be connected with both the LP genotype and CSNB status. The statistical significance of the results (p<<0.0005) confirms the reliability of the observed association.
- The identified SNPs could potentially be used as part of a genetic test for CSNB until more definitive mutational causes are established.
Conclusions
- The research concludes that similar to the Appaloosa breed, the Miniature Horse breed is afflicted by Congenital Stationary Night Blindness, and there seems to be an association with the Leopard Complex spotting pattern.
- The SNPs that were tested in this study could serve as valuable markers in detecting CSNB in Miniature Horses. However, the search for the specific genetic mutation causing this condition still continues.
Cite This Article
APA
Sandmeyer LS, Bellone RR, Archer S, Bauer BS, Nelson J, Forsyth G, Grahn BH.
(2011).
Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse.
Vet Ophthalmol, 15(1), 18-22.
https://doi.org/10.1111/j.1463-5224.2011.00903.x Publication
Researcher Affiliations
- Department of Small Animal Clinical Sciences, University of Saskatchewan, Quill Lake, Saskatchewan, Canada. lynne.sandmeyer@usask.ca
MeSH Terms
- Animals
- Electroretinography / veterinary
- Eye Diseases, Hereditary
- Female
- Genetic Diseases, X-Linked
- Genotype
- Hair Color / genetics
- Horse Diseases / genetics
- Horses
- Male
- Myopia / genetics
- Myopia / veterinary
- Night Blindness / genetics
- Night Blindness / veterinary
- Polymorphism, Single Nucleotide
- Skin Pigmentation / genetics
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