Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness....
Author(s)
Murgiano, L.; Becker, D.; Torjman, D.; Niggel, J. K.; Milano, A.; Cullen, C.; Feng, R.; Wang Fan; Jagannathan, V.; Pearce-Kelling Sue; Katz, M. L.; Leeb, T.; Aguirre, G. D.
Publisher
Genetics Society of America, Bethesda, USA
Citation
G3: Genes, Genomes, Genetics, 2019, 9, 2, pp 425-437
Purpose. To identify the causative mutations in two early-onset canine retinal degenerations, crd1 and crd2, segregating in the American Staffordshire terrier and the Pit Bull Terrier breeds, respectively. Methods. Retinal morphology of crd1- and crd2-affected dogs was evaluated by light...
Author(s)
Goldstein, O.; Mezey, J. G.; Schweitzer, P. A.; Boyko, A. R.; Gao, C.; Bustamante, C. D.; Jordan, J. A.; Aguirre, G. D.; Acland, G. M.
Publisher
Association for Research in Vision and Ophthalmology, Inc., Rockville, USA
Citation
Investigative Ophthalmology & Visual Science, 2013, 54, 10, pp 7005-7019
Purpose: To conduct ophthalmic, behavioral, electrophysiological, and genetic testing on two related Gordon setters presented for day blindness and compare findings with those of nine related and unrelated Gordon setters. Methods: All dogs underwent comprehensive ophthalmic examination. Maze...
Author(s)
Good, K. L.; Komáromy, A. M.; Kass, P. H.; Ofri, R.
Publisher
Wiley-Blackwell, Oxford, UK
Citation
Veterinary Ophthalmology, 2016, 19, 5, pp 398-408
Canine progressive rod-cone degeneration (PRCD) is a middle- to late-onset, autosomal recessive, inherited retinal disorder caused by a substitution (c.5 G > A) in the canine PRCD gene that has been identified in 29 or more purebred dogs. In the present study, a TaqMan probe-based real-time PCR...
Author(s)
Kohyama, M.; Tada, N.; Mitsui, H.; Tomioka, H.; Tsutsui, T.; Yabuki, A.; Rahman, M. M.; Kushida, K.; Mizukami, K.; Yamato, O.
Publisher
Japanese Society of Veterinary Science, Tokyo, Japan
Citation
Journal of Veterinary Medical Science, 2016, 78, 3, pp 481-484
Retinal degeneration (RD) in the Miniature Long Haired Dachshund (MLHD) is a cone-rod dystrophy resulting in eventual blindness in affected individuals. In a previous study, a 44-nucleotide insertion (ins44) in exon 2 of RPGRIP1 was associated with RD. However, results on an extended population of...
Author(s)
Forman, O. P.; Hitti, R. J.; Boursnell, M.; Miyadera, K.; Sargan, D.; Mellersh, C.
Publisher
Springer, New York, USA
Citation
Mammalian Genome, 2016, 27, 5/6, pp 237-245
Progressive rod-cone degeneration (PRCD) is one of several groups of inherited progressive retinal atrophy in dogs. This study aims to describe the characterization of phenotypic appearance and demonstrate the responsible gene mutation, including analysis of the allele frequency of PRCD in Poodle ...
Author(s)
Sussadee, M.; Phavaphutanon, J.; Kasorndorkbua, C.; Kongcharoen, A.; Jitasombuti, P.; Laopiem, S.; Thayananuphat, A.
Publisher
Faculty of Veterinary Science, Chulalongkorn University, Bangkok, Thailand
Citation
Thai Journal of Veterinary Medicine, 2014, 44, 2, pp 209-215
Cone degeneration (cd; day blindness) is one of the inherited retinal diseases of dogs. Its diagnosis is based on vision testing, fundoscopy, electroretinography (ERG) and, for some breeds, on genetic tests. Typical signs of the disease are day blindness and cone dysfunction during ERG while...
Author(s)
Drążek-Kubiak, M.; Lew, M. L. S.
Publisher
Akadémiai Kiadó, Budapest, Hungary
Citation
Acta Veterinaria Hungarica, 2018, 66, 2, pp 204-214
Purpose. The cAMP response element binding protein 1 (CREB1) and activating transcription factor 1 (ATF1) are closely related members of the bZIP superfamily of transcription factors. Both are activated in response to a wide array of stimuli, including cellular stress. This study was conducted to...
Author(s)
Beltran, W. A.; Allore, H. G.; Johnson, E.; Towle, V.; Tao, W.; Acland, G. M.; Aguirre, G. D.; Zeiss, C. J.
Publisher
Association for Research in Vision and Ophthalmology, Inc., Rockville, USA
Citation
Investigative Ophthalmology & Visual Science, 2009, 50, 11, pp 5355-5363
Background: Mitotic terminally differentiated photoreceptors (PRs) are observed in early retinal degeneration (erd), an inherited canine retinal disease driven by mutations in the NDR kinase STK38L (NDR2). Results: We demonstrate that a similar proliferative response, but of lower magnitude, occurs ...
Author(s)
Gardiner, K. L.; Downs, L.; Berta-Antalics, A. I.; Santana, E.; Aguirre, G. D.; Genini, S.
Publisher
BioMed Central Ltd, London, UK
Citation
BMC Genomics, 2016, 17, 221, pp (11 March 2016)
Cataracts are one of the most frequent ocular disorders that affects dogs and leads to blindness. In the late stages, lens opacity unables fundoscopy and consequently the diagnosis of retinal degeneration such as progressive retinal atrophy (PRA), which contraindicates surgery. Aiming the return of ...
Author(s)
Safatle, A. M. V.; Hvenegaard, A. P.; Gomes, D.; Leandro, D. C.; Otsuki, D.; Lisak, R.
Publisher
Colégio Brasileiro de Patologia Animal, Rio de Janeiro, Brazil
Citation
Pesquisa Veterinária Brasileira, 2010, 30, 2, pp 149-154