ArticleBMC veterinary research2008
Progressive retinal atrophy in the Border Collie: a new XLPRA.
Article in BMC veterinary research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Is it canine DUSN?: Another view of retinopathies, some acquired, and others possibly "inherited": Another view of retinopathies, some acquired, and others possibly "inherited".Veterinary ophthalmology · 2022Review
- Evidence for the Continued Occurrence of Chorioretinopathy in Working Sheep Dogs in New Zealand in 2010.Animals : an open access journal from MDPI · 2021Article
- A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.PLoS genetics · 2020Article
- Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.Human genetics · 2019Review
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (G3 (Bethesda, Md.) · 2017Article
- The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.Veterinary medicine (Auckland, N.Z.) · 2016Review
- A large deletion in RPGR causes XLPRA in Weimaraner dogs.Canine genetics and epidemiology · 2016Article
- Increased expression of MERTK is associated with a unique form of canine retinopathy.PloS one · 2014Article
- A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.PloS one · 2013Article
- Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.Molecular vision · 2010Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral forms of progressive retinal atrophy (PRA) segregate in more than 100 breeds of dog with each PRA segregating in one or a few breeds. This breed specificity may be accounted for by founder effects and genetic drift, which have reduced the genetic heterogeneity of each breed, thereby facilitating the identification of causal mutations. We report here a new form of PRA segregating in the Border Collie breed. The clinical signs, including the loss of night vision and a progressive loss of day vision, resulting in complete blindness, occur at the age of three to four years and may be detected earlier through systematic ocular fundus examination and electroretinography (ERG).
resultsOphthalmic examinations performed on 487 dogs showed that affected dogs present a classical form of PRA. Of those, 274 have been sampled for DNA extraction and 87 could be connected through a large pedigree. Segregation analysis suggested an X-linked mode of transmission; therefore both XLPRA1 and XLPRA2 mutations were excluded through the genetic tests.
conclusionHaving excluded these mutations, we suggest that this PRA segregating in Border Collie is a new XLPRA (XLPRA3) and propose it as a potential model for the homologous human disease, X-Linked Retinitis Pigmentosa.
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