Objective:
Sudden acquired retinal degeneration syndrome (SARDS) is one of the leading causes of acute blindness in dogs, with an unknown etiology and no effective treatment. Certain breeds such as Dachshunds are overrepresented among SARDS patients, and therefore the syndrome is suspected to have a genetic component. The objective of this study was to determine if a genetic locus associated with SARDS in Dachshunds could be identified using a genome-wide association study (GWAS).
Procedures:
Genome-wide association mapping was performed in 15 SARDS-affected and 16 unaffected Dachshunds. Genotyping of three classical DLA class II genes (DLA-DRB1, DLA-DQA1, and DLA-DQB1) was performed in 34 SARDS-affected and 66 unaffected Dachshunds to evaluate for an association in this region.
Results:
Although no single nucleotide polymorphisms (SNPs) were of genome-wide statistical significance (PBonferroni <0.05), 5 of the top 9 SNPs were in the major histocompatibility complex (MHC). Using DLA typing, the allele DLA-DRB1*09401 was identified as a risk factor for the development of SARDS (P = 0.0032, OR = 4.0). The alleles DLA-DQB1*00101 (P = 0.0050, OR = 0.31), DLA-DQA1*00901 (P = 0.0087, OR = 0.33), and a previously identified DLA-DRB1 allele described as “DRB1-T” (P = 0.0284, OR = 0.37) were identified as protective factors.
Conclusions:
Although far from definitive, association of SARDS with alleles of immunological importance further supports the hypothesis that autoimmunity may play a role in the pathogenesis of SARDS.
The aim of this retrospective observational study was to characterize the MRI appearance of retinal detachment (RD) in a sample of dogs and cats. Study inclusion was based on the following medical record criteria: (a) had a diagnosis of RD in at least one eye by either funduscopic examination or ocular ultrasound and had an MRI evaluation including the eyes, or (b) had a diagnosis of RD documented in an MRI report for at least one eye and also had a clinical eye examination. Eighteen patients (12 dogs, 6 cats) and 35 eyes met the inclusion criteria, although four eyes that were clinically examined could not be visualized funduscopically and did not have ocular ultrasound performed (criterion 2). The MRI and clinical diagnosis (via either funduscopy or ultrasound) of RD/no RD was concordant in 27 of 31 eyes (87%). Qualitatively, RD appeared as a variable intensity curvilinear structure located internal and adjacent to the sclera on all sequences and was best delineated on T2W sequences. RDs inconsistently contrast enhanced and, although there was no statistical difference, subjectively appeared more clearly delineated on dorsal and parasagittal images. In conclusion, findings from the current study support using MRI as an ancillary diagnostic test for confirmation or further characterization of RD in dogs and cats.
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