scholarly journals Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to anRPGRIP1Mutation

2012 ◽  
Vol 2012 ◽  
pp. 1-12 ◽  
Author(s):  
Kristina Narfström ◽  
Manbok Jeong ◽  
Jennifer Hyman ◽  
Richard W. Madsen ◽  
Tomas F. Bergström
Keyword(s):  
Retinal Degeneration ◽  
Clinical Signs ◽  
Objective Evaluation ◽  
Progressive Retinal Atrophy ◽  
Molecular Defects ◽  
Morphological Studies ◽  
Retinal Atrophy ◽  
Hereditary Retinal Degeneration ◽  
Disease Entities ◽  
Leber’S Congenital Amaurosis

Intensive breeding and selection on desired traits have produced high rates of inherited diseases in dogs. Hereditary retinal degeneration, often called progressive retinal atrophy (PRA), is prevalent in dogs with disease entities comparable to human retinitis pigmentosa (RP) and Leber’s congenital amaurosis (LCA). Recent molecular studies in the English Springer Spaniel (ESS) dog have shown that PRA cases are often homozygous for a mutation in the RPGRIP1 gene, the defect also causing human RP, LCA, and cone rod dystrophies. The present study characterizes the disease in a group of affected ESS in USA, using clinical, functional, and morphological studies. An objective evaluation of retinal function using electroretinography (ERG) is further performed in a masked fashion in a group of American ESS dogs, with the examiner masked to the genetic status of the dogs. Only 4 of 6 homozygous animals showed clinical signs of disease, emphasizing the need and importance for more precise studies on the clinical expression of molecular defects before utilizing animal models for translational research, such as when using stem cells for therapeutic intervention.

scholarly journals Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs

2020 ◽  
Author(s):  
Suvi Mäkeläinen ◽  
Minas Hellsand ◽  
Anna Darlene van der Heiden ◽  
Elina Andersson ◽  
Elina Thorsson ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Loss Of Function ◽  
Cdna Sequencing ◽  
Renal Anomalies ◽  
Progressive Retinal Atrophy ◽  
Bardet Biedl Syndrome ◽  
Oxford Nanopore ◽  
Retinal Atrophy ◽  
Long Read ◽  
Careful Comparison

In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans, TTC8 is also implicated in Bardet-Biedl syndrome (BBS). To investigate if the affected dogs only exhibit a non-syndromic PRA or develop a syndromic ciliopathy similar to human BBS, we recruited ten affected dogs to the study. The progression of PRA for two of the dogs was followed for two years, and a rigorous clinical characterization allowed a careful comparison with primary and secondary characteristics of human BBS. In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. We used Oxford Nanopore long-read cDNA sequencing to characterize retinal full-length TTC8 transcripts in affected and non-affected dogs, the results of which suggest that three isoforms are transcribed in the retina, and the 1 bp deletion is a loss-of-function mutation, resulting in a canine form of Bardet-Biedl syndrome with heterogeneous clinical signs.

scholarly journals Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1090
Author(s):  
Suvi Mäkeläinen ◽  
Minas Hellsand ◽  
Anna Darlene van der Heiden ◽  
Elina Andersson ◽  
Elina Thorsson ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Loss Of Function ◽  
Cdna Sequencing ◽  
Renal Anomalies ◽  
Progressive Retinal Atrophy ◽  
Bardet Biedl Syndrome ◽  
Oxford Nanopore ◽  
Retinal Atrophy ◽  
Long Read ◽  
Careful Comparison

In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans, TTC8 is also implicated in Bardet–Biedl syndrome (BBS). To investigate if the affected dogs only exhibit a non-syndromic PRA or develop a syndromic ciliopathy similar to human BBS, we recruited 10 affected dogs to the study. The progression of PRA for two of the dogs was followed for 2 years, and a rigorous clinical characterization allowed a careful comparison with primary and secondary characteristics of human BBS. In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. We used Oxford Nanopore long-read cDNA sequencing to characterize retinal full-length TTC8 transcripts in affected and non-affected dogs, the results of which suggest that three isoforms are transcribed in the retina, and the 1 bp deletion is a loss-of-function mutation, resulting in a canine form of Bardet–Biedl syndrome with heterogeneous clinical signs.

scholarly journals A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72122 ◽  
Author(s):  
Saija J. Ahonen ◽  
Meharji Arumilli ◽  
Hannes Lohi
Keyword(s):  
Frameshift Mutation ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

Retinal Oxygenation and Oxygen Metabolism in Abyssinian Cats with a Hereditary Retinal Degeneration

2006 ◽  
Vol 47 (8) ◽  
pp. 3683 ◽  
Author(s):  
Lissa Padnick-Silver ◽  
Jennifer J. Kang Derwent ◽  
Elizabeth Giuliano ◽  
Kristina Narfstro¨m ◽  
Robert A. Linsenmeier
Keyword(s):  
Retinal Degeneration ◽  
Oxygen Metabolism ◽  
Hereditary Retinal Degeneration

scholarly journals A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever

2014 ◽  
Vol 1 (1) ◽  
pp. 4 ◽  
Author(s):  
Louise M Downs ◽  
Berit Wallin-Håkansson ◽  
Tomas Bergström ◽  
Cathryn S Mellersh
Keyword(s):  
Novel Mutation ◽  
Golden Retriever ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

scholarly journals Ocular abnormalities in Polish Hunting Dogs

PLoS ONE ◽  
2021 ◽  
Vol 16 (11) ◽  
pp. e0258636
Author(s):  
Ireneusz Balicki ◽  
Małgorzata Goleman ◽  
Agnieszka Balicka
Keyword(s):  
Clinical Signs ◽  
Eye Diseases ◽  
Ophthalmological Examination ◽  
Progressive Retinal Atrophy ◽  
Ocular Abnormalities ◽  
Retinal Lesions ◽  
Retinal Layers ◽  
Hunting Dogs ◽  
Interdigitation Zone ◽  
Sd Oct

This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years. Ophthalmic examinations were performed using slit lamp biomicroscopy, ophthalmoscopy, and tonometry based on the ophthalmological protocol for the examination of hereditary eye diseases. Spectral-domain optical coherence tomography (SD-OCT) was performed for dogs with sudden acquired retinal degeneration syndrome (SARDS) and progressive retinal atrophy (PRA), while electroretinography was also performed in dogs with SARDS. Five dogs (2.6%) were diagnosed with cataract, iris coloboma in 3 dogs (1.6%), ocular dermoid in 1 dog (0.5%), and retinal dysplasia, distichiasis and entropion in 1 dog (1%). Three dogs (1.6%) were diagnosed with PRA and SARDS occurred in 1 dog. Retinal lesions was observed in 16 dogs (8.3%). The clinical signs of retinopathy observed in Polish Hunting Dogs included discoloration of the tapetal fundus, patchy increased reflectivity in the region of discoloration, focus of hyperpigmentation and an area of tapetal hyper-reflectivity with a pigmented center. SD-OCT performed in the 3 dogs with PRA revealed alteration in the retinal layers, which was most advanced in the non-tapetal fundus. Although SD-OCT revealed retinal layers with normal architecture only in some parts of the dorsal, nasal and temporal regions in dogs with SARDS, areas of disorganized external limiting membrane, myeloid zone, ellipsoid zone, outer photoreceptor segment and interdigitation zone were also observed. Polish Hunting Dogs should undergo periodic ophthalmological examination for the evaluation of other hereditary eye diseases. The prevalence of retinal lesions in Polish Hunting Dogs requires further research.

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