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1.
Sci Rep ; 12(1): 18980, 2022 11 08.
Article in English | MEDLINE | ID: mdl-36348026

ABSTRACT

Acute primary angle closure glaucoma is a potentially blinding ophthalmic emergency requiring prompt treatment to lower the elevated intraocular pressure in humans and dogs. The PACG in most of canine breeds is epidemiologically similar to humans with older and female patients overrepresented with the condition. The American Cocker Spaniel (ACS) is among the most common breeds observed with PACG development in dogs. This study initially sought to identify genetic risk factors to explain the high prevalence of PACG in ACSs by using a case-control breed-matched genome-wide association study. However, the GWAS failed to identify candidate loci associated with PACG in this breed. This study then assessed intrinsic ocular morphologic traits that may relate to PACG susceptibility in this breed. Normal ACSs without glaucoma have a crowded anterior ocular segment and narrow iridocorneal angle and ciliary cleft, which is consistent with anatomical risk factors identified in humans. The ACSs showed unique features consisting of posterior bowing of iris and longer iridolenticular contact, which mirrors reverse pupillary block and pigment dispersion syndrome in humans. The ACS could hold potential to serve as an animal model of naturally occurring PACG in humans.


Subject(s)
Glaucoma, Angle-Closure , Glaucoma, Open-Angle , Dogs , Humans , Animals , Female , Glaucoma, Angle-Closure/genetics , Glaucoma, Angle-Closure/veterinary , Glaucoma, Angle-Closure/complications , Genome-Wide Association Study , Plant Breeding , Iris , Glaucoma, Open-Angle/complications , Acute Disease , Intraocular Pressure
2.
Am J Vet Res ; 83(11): 1-8, 2022 Oct 03.
Article in English | MEDLINE | ID: mdl-36170212

ABSTRACT

OBJECTIVE: To identify genetic associations with primary glaucoma (PG) in American Cocker Spaniels using a genome-wide association study (GWAS). ANIMALS: A nationwide ambidirectional case-control cohort study was performed in American Cocker Spaniels that had an ophthalmic examination performed by a veterinarian. Ninety-four dogs with PG (cases) and 111 dogs without glaucoma (controls) met phenotypic criteria and had a blood sample collected after receiving informed owner consent. PROCEDURES: Genomic DNA was extracted from whole blood samples and genotyped (CanineHD BeadChip, Illumina Inc). A case-control GWAS using a linear mixed model was performed, and 3 significance thresholds were calculated (1) using a Bonferroni correction on all single nucleotide polymorphisms (SNPs) included in the GWAS, (2) using a Bonferroni correction on only the unlinked SNPs from a pruned data set, and (3) using 10,000 random phenotype permutations. RESULTS: Following genotype data quality control, 89 cases and 93 controls were included in the GWAS. We identified an association on canine chromosome (CFA10); however, it did not reach statistical significance. Potential candidate genes within the surrounding linkage disequilibrium interval include coiled-coil domain containing 85A (CCDC85A) and extracellular growth factor containing fibulin extracellular matrix protein 1 (EFEMP1). CLINICAL RELEVANCE: Primary glaucoma in the American Cocker Spaniel is a complex heterogeneous disease that may be influenced by a locus on CFA10. The candidate genes CCDC85A and EFEMP1 within the identified linkage disequilibrium interval have been shown to be involved in human open-angle glaucoma.


Subject(s)
Dog Diseases , Glaucoma, Open-Angle , Glaucoma , Animals , Dogs , Case-Control Studies , Dog Diseases/genetics , Extracellular Matrix Proteins/genetics , Genetic Loci , Genetic Predisposition to Disease , Genome-Wide Association Study/veterinary , Genotype , Glaucoma/genetics , Glaucoma/veterinary , Glaucoma, Open-Angle/genetics , Glaucoma, Open-Angle/veterinary , Polymorphism, Single Nucleotide
3.
Front Vet Sci ; 9: 862414, 2022.
Article in English | MEDLINE | ID: mdl-35782544

ABSTRACT

The current feline genotyping array of 63 k single nucleotide polymorphisms has proven its utility for mapping within breeds, and its use has led to the identification of variants associated with Mendelian traits in purebred cats. However, compared to single gene disorders, association studies of complex diseases, especially with the inclusion of random bred cats with relatively low linkage disequilibrium, require a denser genotyping array and an increased sample size to provide statistically significant associations. Here, we undertook a multi-breed study of 1,122 cats, most of which were admitted and phenotyped for nine common complex feline diseases at the Cornell University Hospital for Animals. Using a proprietary 340 k single nucleotide polymorphism mapping array, we identified significant genome-wide associations with hyperthyroidism, diabetes mellitus, and eosinophilic keratoconjunctivitis. These results provide genomic locations for variant discovery and candidate gene screening for these important complex feline diseases, which are relevant not only to feline health, but also to the development of disease models for comparative studies.

4.
Can Vet J ; 62(1): 27-31, 2021 01.
Article in English | MEDLINE | ID: mdl-33390595

ABSTRACT

A 12-year-old castrated male cocker spaniel dog was presented with a 4-week history of left episcleral injection and pawing at the face. Clinical examination findings included left internal and external ophthalmoplegia, left dorsal strabismus, pain opening the mouth, and intermittent amaurosis. Imaging studies revealed a left orbital apex mass with adjacent sphenoid bone lysis and extension into the cranial cavity. A left exenteration was performed and histopathology confirmed an orbital soft tissue sarcoma. Key clinical message: This report describes an orbital tumor causing orbital apex syndrome. This condition should be differentiated from cavernous sinus syndrome as the latter does not course with optic neuropathy.


Syndrome de l'apex orbitaire secondaire à un sarcome orbitaire chez un chien. Un épagneul mâle castré âgé de 12 ans fut présenté avec une histoire d'injection épisclérale gauche et frottage de la face d'une durée de 4 semaines. Les trouvailles de l'examen clinique incluaient une ophtalmoplégie interne et externe à gauche, un strabisme dorsal à gauche, de la douleur lors de l'ouverture de la gueule et une amaurose intermittente. Les examens par imagerie ont révélé une masse dans l'apex orbitaire gauche avec lyse de l'os sphénoïde adjacent et extension dans la cavité crânienne. Une exentération gauche fut effectuée et l'histopathologie confirma un sarcome des tissus mous orbitaires.Message clinique clé:Ce rapport décrit une tumeur orbitaire causant un syndrome de l'apex orbitaire. Cette condition devrait être distinguée du syndrome du sinus caverneux étant donné que ce dernier n'évolue pas avec une neuropathie optique.(Traduit par Dr Serge Messier).


Subject(s)
Dog Diseases , Ophthalmoplegia , Orbital Diseases , Orbital Neoplasms , Sarcoma , Animals , Dog Diseases/diagnosis , Dogs , Male , Ophthalmoplegia/diagnosis , Ophthalmoplegia/etiology , Ophthalmoplegia/veterinary , Orbital Diseases/veterinary , Orbital Neoplasms/complications , Orbital Neoplasms/diagnosis , Orbital Neoplasms/veterinary , Sarcoma/complications , Sarcoma/veterinary , Syndrome
5.
Open Vet J ; 8(2): 125-130, 2018.
Article in English | MEDLINE | ID: mdl-29721442

ABSTRACT

Two 3 year-old, healthy, client-owned Lop rabbits presented with bilateral cataracts. After performing a physical examination, bloodwork, ocular ultrasonography and electroretinography, both animals were deemed good surgical candidates for phacoemulsification. Bilateral cataract surgery was performed and both rabbits regained vision in both eyes. Both animals developed post-operative ocular hypertension and one animal developed corneal ulcers immediately after surgery. Both surgical complications resolved with medical management. This case series describes phacoemulsification of bilateral cataracts in 2 companion rabbits and the use of an intraocular lens in 1 rabbit. Surgical treatment of cataracts can be considered as a treatment option whenever a healthy rabbit is visually impaired due to cataracts.

6.
Vet Ophthalmol ; 14 Suppl 1: 75-83, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21923827

ABSTRACT

OBJECTIVE: To determine the effects of topical 0.5% tropicamide on anterior segment morphology (ASM) and intraocular pressure (IOP) in normal and glaucomatous cats. ANIMALS USED: Normal cats and cats with inherited primary congenital glaucoma (PCG). PROCEDURES: Control IOP curves were performed in untreated normal and PCG cats. In the first experiment, tropicamide was applied OD in eight normal and nine PCG cats. IOP and pupillary diameter (PD) were measured at 0, 30, and 60 min, then hourly until 8 h post-treatment. In a second experiment, six normal and seven PCG cats received tropicamide OD. High-resolution ultrasound images were obtained at 0, 1, 5, and 10 h post-treatment to measure ASM changes. IOP and PD were measured OD at 0, 1, 2, 3, 5, 7, and 9 h. RESULTS: In untreated normal cats IOP OU decreased throughout the day. In PCG cats IOP OU had wide fluctuations over time. In normal cats IOP response varied in the treated eye but did not change significantly in untreated eyes. IOP significantly increased from baseline in both eyes of all treated PCG cats. Increases in IOP were associated with some ASM changes. Cats with PCG had a significantly smaller angle recess areas, diminished ciliary clefts and decreased iris-lens contact. ASM changes were not strongly correlated with IOP in all cats. CONCLUSIONS: The ASM of PCG cats is markedly different from normal cats, and clinically significant increases in IOP OU occur in cats with PCG after tropicamide treatment. The mechanism for this increase remains unclear.


Subject(s)
Cat Diseases/drug therapy , Glaucoma/veterinary , Intraocular Pressure/drug effects , Mydriatics/therapeutic use , Tropicamide/therapeutic use , Administration, Ophthalmic/veterinary , Animals , Cat Diseases/physiopathology , Cats , Female , Glaucoma/drug therapy , Glaucoma/physiopathology , Male , Pupil/drug effects
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