Tear production decreases with age in the normal dog. In this population of dogs the largest difference was between the 10:00 am and the 4:00 pm STT measurements, but this still only amounted to 0.7 mm. This value is unlikely to be of clinical significance in the diagnosis of keratoconjunctivitis sicca (KCS).

The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as an unparalled model with which to study the genetics of inherited traits. We used a genome-wide association study (GWAS) and targeted resequencing of DNA from just five dogs to simultaneously map and identify mutations for two distinct inherited disorders that both affect a single breed, the Cavalier King Charles Spaniel. We investigated episodic falling (EF), a paroxysmal exertion-induced dyskinesia, alongside the phenotypically distinct condition congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), commonly known as dry eye curly coat syndrome. EF is characterised by episodes of exercise-induced muscular hypertonicity and abnormal posturing, usually occurring after exercise or periods of excitement. CKCSID is a congenital disorder that manifests as a rough coat present at birth, with keratoconjunctivitis sicca apparent on eyelid opening at 10–14 days, followed by hyperkeratinisation of footpads and distortion of nails that develops over the next few months. We undertook a GWAS with 31 EF cases, 23 CKCSID cases, and a common set of 38 controls and identified statistically associated signals for EF and CKCSID on chromosome 7 (Praw 1.9×10−14; Pgenome = 1.0×10−5) and chromosome 13 (Praw 1.2×10−17; Pgenome = 1.0×10−5), respectively. We resequenced both the EF and CKCSID disease-associated regions in just five dogs and identified a 15,724 bp deletion spanning three exons of BCAN associated with EF and a single base-pair exonic deletion in FAM83H associated with CKCSID. Neither BCAN or FAM83H have been associated with equivalent disease phenotypes in any other species, thus demonstrating the ability to use the domestic dog to study the genetic basis of more than one disease simultaneously in a single breed and to identify multiple novel candidate genes in parallel.

Although ultrasound and MRI are the imaging modalities of choice for the investigation of ocular diseases, the eyes are included in routine CT examinations of the head and should be examined as part of the complete evaluation. This report describes the dimensions, volumes and densities of the normal canine globe in CT. Forty-four eyes were studied. The mean axial length of the globe was 2.09 cm and its mean volume was 4.65 cm(3). The mean anteroposterior distance of the anterior chamber was 0.4 cm and of the vitreous chamber was 0.96 cm. There was a statistically significant difference between the mean aqueous humour density, 14.76 Hounsfield units (HU), and the mean vitreous humour density, 11.20 HU (P=0.0009). Statistically significant differences were also seen in both humours in precontrast and postcontrast studies. The mean anteroposterior dimension of the lens was 0.74 cm; its mean equatorial distance was 1.15 cm. The mean volume was 0.43 cm(3) and its mean density was 131.9 HU. There was contrast enhancement of the ciliary body, iris and retina/sclera/choroid complex. This study provides reference values to help in the interpretation of ocular structures on CT scans of the head, where incidental findings can change the medical management of specific cases.

Progressive retinal atrophy (PRA) in dogs is characterised by the degeneration of the photoreceptor cells of the retina, resulting in vision loss and eventually complete blindness. The condition affects more than 100 dog breeds and is known to be genetically heterogeneous between breeds. Around 14 mutations have now been identified that are associated with PRA in around 49 breeds, but for the majority of breeds the mutation(s) responsible have yet to be identified. Using genome-wide association with 16 Gordon Setter PRA cases and 22 controls, we identified a novel PRA locus, termed rod-cone degeneration 4 (rcd4), on CFA17 (Praw  = 2.22 × 10(-8) , Pgenome  = 2.00 × 10(-5) ), where a 3.2-Mb region was homozygous within cases. A frameshift mutation was identified in C2orf71, a gene located within this region. This variant was homozygous in 19 of 21 PRA cases and was at a frequency of approximately 0.37 in the Gordon Setter population. Approximately 10% of cases in our study (2 of 21) are not associated with this C2orf71 mutation, indicating that PRA in this breed is genetically heterogeneous and caused by at least two mutations. This variant is also present in a number of Irish Setter dogs with PRA and has an estimated allele frequency of 0.26 in the breed. The function of C2orf71 remains unknown, but it is important for retinal development and function and has previously been associated with autosomal recessive retinitis pigmentosa in humans.