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Progressive retinal atrophy, PDE6B-related (EO-PRA)
Breed: Spanish Waterdog
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Progressive retinal atrophy, PDE6B-related (EO-PRA)
OMIA
2282
Gene Name
PDE6B
Mutation
g.91749865_91749870del
Mutation 2
c.2218-2223del
Mutation 3
p.(Phe740_Phe741del)
Test Type
Genetic Disease/Disorder
Details
Winkler et al. (2020): "Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity"
Published
2020 Winkler, P.A., Ramsey, H.D., Petersen-Jones, S.M. : A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol :, 2020. Pubmed reference: 32639685. DOI: 10.1111/vop.12792.
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Spanish Water Dog
HSP Test-Specific Data
Laboklin Gmbh & Co. KG
GTP
Breed
OMIA
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