Ocular surface physiology and aqueous tear secretion in cats of diverse cephalic conformations.

OBJECTIVE: To describe normative ocular surface and aqueous tear testing data for cats of various cephalic conformation. ANIMALS STUDIED: Fifty-three healthy adult cats (11 British Shorthair, 11 Burmese, 10 Devon Rex, 10 Scottish Fold, and 11 Sphynx). PROCEDURES: Blink rate, corneal tactile sensation (CTS), and Schirmer tear test with or without topical anesthesia (STT-1, STT-2) and with nasolacrimal stimulation (NL-STT1, NL-STT2) were assessed. Palpebral fissure length (PFL) and skull morphology were measured, and cephalic index (CI) and craniofacial ratio (CFR) calculated. RESULTS: Mean ± SD test results were as follows: blink rate (5.0 ± 2.3 blinks/min), CTS (3.2 ± 0.7 cm), STT-1 (11.2 ± 4.3 mm/min), STT-2 (6.7 ± 3.6 mm/min), NL-STT1 (13.4 ± 5.7 mm/min), NL-STT2 (13.5 ± 5.2 mm/min), and PFL (2.0 ± 0.2 cm). Corneal sensitivity did not differ significantly among breeds (p = .152) but was negatively correlated with body weight (r = -.32, p = .019). STT-1 significantly differed among breeds (p < .001) and was lowest in Sphynx cats (8.7 ± 4.3 mm/min). A positive correlation was detected between STT-1 values at 30 and 60 s (r = .98; p < .001). The nasolacrimal reflex significantly increased STT in anesthetized and unanesthetized eyes (approximately +100% and +20%, respectively; p ≤ .002). STT-1 tended to be higher in intact versus neutered cats (p = .062). Age did not impact any test result (p ≥ .085). CONCLUSIONS: Normative data described here serve as a baseline for future studies assessing ocular surface disease in multiple feline breeds. Unlike dogs, brachycephalic cats did not have lower CTS or STT-1 than non-brachycephalic cats.

MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA).

We investigated a hereditary syndrome in Cane Corso dogs. Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss. Combined linkage and homozygosity mapping delineated a 5.8 Mb critical interval. The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected the MIA3 gene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4del, leads to skipping of two exons from the wild type transcript, XM_005640835.3:r.3712_3822del. Genotypes at the variant were consistent with monogenic autosomal recessive mode of inheritance in a complete family and showed perfect genotype-phenotype association in 18 affected and 22 unaffected Cane Corso dogs. MIA3 variants had previously been shown to cause related phenotypes in humans and mice. Our data in dogs together with the existing functional knowledge of MIA3 variants in other mammalian species suggest the MIA3 splice defect and a near complete loss of gene function as causative molecular pathomechanism for the DSRA phenotype in the investigated dogs.