ArticleInvestigative ophthalmology & visual science2007
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Article in Investigative ophthalmology & visual science, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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69 citing papers in PubMed, 119 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Canine Best disease as a translational model.Eye (London, England) · 2025Review
- Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.Journal of translational medicine · 2024Review
- Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.Vision research · 2024Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Ophthalmic Disease and Screening in Breeding Dogs.The Veterinary clinics of North America. Small animal practice · 2023Review
- The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.PloS one · 2023Article
- Development of retinal bullae in dogs with progressive retinal atrophy.Veterinary ophthalmology · 2022Article
- 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
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Review
- Comparative pharmacokinetics and pharmacodynamics of the advanced Retinol-Binding Protein 4 antagonist in dog and cynomolgus monkey.PloS one · 2020Article
- GABA, but Not Bestrophin-1, Is Localized in Astroglial Processes in the Mouse Hippocampus and the Cerebellum.Frontiers in molecular neuroscience · 2020Article
- Functional Genomics of the Retina to Elucidate its Construction and Deconstruction.International journal of molecular sciences · 2019Review
- The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.Biology open · 2019Article
- AGenes · 2019Article
- Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.PLoS genetics · 2019Article
- Multimodal Imaging in Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeCanine multifocal retinopathy (cmr) is an autosomal recessive disorder of multiple dog breeds. The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease.
methodscmr was characterized by ophthalmoscopy and histopathology and compared with BMD-affected patients. BEST1 (alias VMD2), the bestrophin gene causally associated with BMD, was evaluated in the dog. Canine ortholog cDNA sequence was cloned and verified using RPE/choroid 5'- and 3'-RACE. Expression of the canine gene transcripts and protein was analyzed by Northern and Western blotting and immunocytochemistry. All exons and the flanking splice junctions were screened by direct sequencing.
resultsThe clinical phenotype and pathology of cmr closely resemble lesions of BMD. Canine VMD2 spans 13.7 kb of genomic DNA on CFA18 and shows a high level of conservation among eukaryotes. The transcript is predominantly expressed in RPE/choroid and encodes bestrophin, a 580-amino acid protein of 66 kDa. Immunocytochemistry of normal canine retina demonstrated specific localization of protein to the RPE basolateral plasma membranes. Two disease-specific sequence alterations were identified in the canine VMD2 gene: a C(73)T stop mutation in cmr1 and a G(482)A missense mutation in cmr2.
conclusionsThe authors propose these two spontaneous mutations in the canine VMD2 gene, which cause cmr, as the first naturally occurring animal model of BMD. Further development of the cmr models will permit elucidation of the complex molecular mechanism of these retinopathies and the development of potential therapies.
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