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Articles 31 - 34 of 34
Full-Text Articles in Ophthalmology
Canine Multifocal Retinopathy In The Australian Shepherd: A Case Report, Ingo Hoffmann, Karina E. Guziewicz, Barbara Zangerl, Gustavo D. Aguirre, Christian Y. Mardin
Canine Multifocal Retinopathy In The Australian Shepherd: A Case Report, Ingo Hoffmann, Karina E. Guziewicz, Barbara Zangerl, Gustavo D. Aguirre, Christian Y. Mardin
Gustavo D. Aguirre, VMD, PhD
A 1-year-old Australian Shepherd (AS) was presented for a routine hereditary eye examination. During the examination multiple raised, brown to orange lesions were noted in the fundus, which could not be attributed to a known retinal disease in this breed. As they clinically most closely resembled canine multifocal retinopathy (cmr) and no indication of an acquired condition was found, genetic tests for BEST1 gene mutations were performed. These showed the dog to be homozygous for the cmr1 (C73T/R25X) gene defect. Furthermore, ultrasound (US), electroretinography (ERG), and optical coherence tomography were performed, confirming changes typical for cmr. Subsequently, the AS pedigree …
A Naturally Occurring Mutation Of The Opsin Gene (T4r) In Dogs Affects Glycosylation And Stability Of The G Protein-Coupled Receptor, Li Zhu, Geeng-Fu Jang, Beata Jastrzebska, Slawomir Filipek, Susan E. Pearce-Kelling, Gustavo D. Aguirre, Ronald E. Stenkamp, Gregory M. Acland, Krzysztof Palczewski
A Naturally Occurring Mutation Of The Opsin Gene (T4r) In Dogs Affects Glycosylation And Stability Of The G Protein-Coupled Receptor, Li Zhu, Geeng-Fu Jang, Beata Jastrzebska, Slawomir Filipek, Susan E. Pearce-Kelling, Gustavo D. Aguirre, Ronald E. Stenkamp, Gregory M. Acland, Krzysztof Palczewski
Gustavo D. Aguirre, VMD, PhD
Rho (rhodopsin; opsin plus 11-cis-retinal) is a prototypical G protein-coupled receptor responsible for the capture of a photon in retinal photoreceptor cells. A large number of mutations in the opsin gene associated with autosomal dominant retinitis pigmentosa have been identified. The naturally occurring T4R opsin mutation in the English mastiff dog leads to a progressive retinal degeneration that closely resembles human retinitis pigmentosa caused by the T4K mutation in the opsin gene. Using genetic approaches and biochemical assays, we explored the properties of the T4R mutant protein. Employing immunoaffinity-purified Rho from affected RHOT4R/T4R dog retina, we found …
Rpgrip1 And Cone-Rod Dystrophy In Dogs, Tatyana N. Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre
Rpgrip1 And Cone-Rod Dystrophy In Dogs, Tatyana N. Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype–phenotype discordance observed in dogs with the RPGRIP1 mutation.
Vasoactive Neuropeptides In Clinical Ophthalmology: An Association With Autoimmune Retinopathy?, Donald R. Staines, Ekua W. Brenu, Sonya Marshall-Gradisnik
Vasoactive Neuropeptides In Clinical Ophthalmology: An Association With Autoimmune Retinopathy?, Donald R. Staines, Ekua W. Brenu, Sonya Marshall-Gradisnik
Sonya Marshall-Gradisnik
The mammalian eye is protected against pathogens and inflammation in a relatively immune-privileged environment. Stringent mechanisms are activated that regulate external injury, infection, and autoimmunity. The eye contains a variety of cells expressing vasoactive neuropeptides (VNs), and their receptors, located in the sclera, cornea, iris, ciliary body, ciliary process, and the retina. VNs are important activators of adenylate cyclase, deriving cyclic adenosine monophosphate (cAMP) from adenosine triphosphate (ATP). Impairment of VN function would arguably impede cAMP production and impede utilization of ATP. Thus VN autoimmunity may be an etiological factor in retinopathy involving perturbations of purinergic signaling. A sound blood …