Search

Abstract Background Distichiasis is a condition characterized by aberrant hairs along the eyelid margins. The symptoms are usually mild but can lead to ulcerations and lesions of the cornea in severe cases. It is the most frequently noted ocular disorder in Norwegian Staffordshire bull terriers (SBT), with a prevalence above 18% in the adult population. A complex inheritance is assumed, but there is sparse knowledge about the genetic background of distichiasis in dogs. We have performed a genome-wide association study of distichiasis in SBT and used genomic data in an attempt to predict genomic values for the disorder. Results We identified four genetic regions on CFA1, CFA18, CFA32 and CFA34 using a mixed linear model association analysis and a Bayesian mixed model analysis. Genomic values were predicted using GBLUP and a Bayesian approach, BayesR. The genomic prediction showed that the 1/4 of dogs with predicted values most likely to acquire distichiasis had a 3.9 -4.0 times higher risk of developing distichiasis compared to the quarter (1/4) of dogs least likely to acquire the disease. There was no significant difference between the two methods used. Conclusion Four genomic regions associated with distichiasis were discovered in the association analysis, suggesting that distichiasis in SBT is a complex trait involving numerous loci. The four associated regions need to be confirmed in an independent sample. We also used all 95 K SNPs for genomic prediction and showed that genomic prediction can be a helpful tool in selective breeding schemes at breed level aiming at reducing the prevalence of distichiasis in SBTs in the future, even if the predictive value of single dogs may be low.

Abstract Background Distichiasis is the most frequently recorded eye disorder in the Norwegian Staffordshire bull terrier (SBT). The condition is often mild but can, in severe cases, lead to pain and blindness. The current study's main purpose was to estimate the heritability based on pedigree information as well as single nucleotide polymorphisms (SNPs) to evaluate whether it is realistic to reduce the frequency by systematic breeding. The majority of the dogs had only one examination as a young puppy. To evaluate whether this early screening gave a reliable representation of the disease burden in the population, we compared the diagnosis in puppies and adult dogs. Results Our material consisted of data from 4177 dogs with an overall prevalence of distichiasis of 8.38% (CI 7.56–9.26). The prevalence in puppies examined around eight weeks of age was significantly lower than in dogs examined after 52 weeks (2.87%, CI 2.29–3.54 versus 18.72%, CI 16.71–20.87). The heritability was estimated in dogs examined after 52 weeks. We used both pedigree (1391 dogs) and genotype (498 dogs) information for the estimates. The pedigree-based heritability was ~ 0.22 (on the underlying scale ~ 0.48), while the genomic-based heritability (on the underlying scale) was ~ 0.47, and ~ 0.37 when excluding close relatives with equal affection status. Conclusions Screening for distichiasis in puppies before eight weeks of age is not sufficient to give an accurate estimate of the prevalence, and an additional examination after one year is recommended. The heritability of distichiasis is medium to high, showing that it should be possible to reduce the prevalence by selective breeding.

Abstract Background A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed. Results Three of the genes, CNGB3, CNGA3 and GNAT2, involved in cone degeneration and seven genes and loci, ABCA4, RDH5, CORD8, CORD9, RPGRIP1, GUCY2D and CRX, reported to be involved in cone-rod dystrophies were studied. Polymorphic markers at each of the candidate loci were studied in a family with 36 informative offspring. The study revealed a high frequency of recombinations between the candidate marker alleles and the disease. Conclusion Since all of the markers were at the exact position of the candidate loci, and several recombinations were detected for each of the loci, all ten genes were excluded as causal for this canine, early onset cone-rod dystrophy. The described markers may, however, be useful to screen other canine resource families segregating eye diseases for association to the ten genes.

Abstract: Objective: To describe the frequency of the nonhomologous end‐joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. Animals studied: Border collie puppies in the age from 5 to 8 weeks. Material and methods: Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8‐kb deletion in the gene encoding NHEJ1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. Results: 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly (CEA). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ1 gene, 17 puppies were carriers, and one puppy was genetically affected. Conclusions: A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%. [ABSTRACT FROM AUTHOR]

Key Clinical Message A uveal leiomyosarcoma of a horse is reported. There are few published reports of intraocular tumors in horses. Intraocular tumors challenge animal welfare by causing uveitis, glaucoma, and loss of vision. Knowledge regarding treatment of intraocular tumors with globe preservation is sparse, and further investigations on this topic are required. [ABSTRACT FROM AUTHOR]