Progressive Retinal Atrophy (PRA-prcd)
            Breed: Portuguese Podengos
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these 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  for these breeds 
                
                
                
            
            
        
        General
        
            Disease Name
        
    
    
            Progressive Retinal Atrophy (PRA-prcd)
            
        
        
        
            OMIA
        
    
    
            1298
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            Mutation 2
        
    
    
            G1298A
            
        
        
        
            Mutation 3
        
    
    
            c.2685delA
            
        
        
        
            Mutation 4
        
    
    
            c.2687_2688insTAGCTA
            
        
        
        
            Mutation Notes
        
    
    
            Test has been reported as being offered as a linkage/marker test, from some GTPs
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            PRA-prcd is progressive, and late-onset, where retina cells are lost slowly. This initially causes problems seeing in dim light, usually around ages 3-5, though diagnosis by an ophthalmologist can be earlier, around 1-2 years. It can progress to complete blindness is some dogs, but not all cases. This disease is seen in many breeds and crosses.
            
        
        
        
            Details 2
        
    
    
            Canine progressive rod-cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. An allelic disorders present in multiple breeds, and crosses of those breeds. Research strongly suggests that a common ancestor transmitted the prcd disease allele to many of the modern dog breeds. Diagnosis of prcd is based on a combination of clinical examination, including indirect ophthalmoscopy and electroretinography, and retinal morphology. Retinal photoreceptor abnormalities are visible in animals 14 weeks of age and older using high-resolution optical microscopy.
            
        
        
        
            Patents/ Licences
        
    
    
            Patent: OptiGen - US, CA, UK. (please note that patent and licensing laws and coverage vary by country)
            
        
        
        
            Published
        
    
    
            Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. : Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics :, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
            
        
        
        
            Published 2
        
    
    
            Aguirre, G., Alligood, J., O'Brien, P., Buyukmihci, N. : Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci 23:610-30, 1982. Pubmed reference: 6215376.
            
        
        
        
            Body/System/Process
        
    
    
            Eye
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            American cocker spaniel, Australian Cattle Dog, Australian Shepherd, Australian stumpy tail cattle dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian bear dog, Kuvasz, Labrador Retriever, Lapponian Herder , Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling retriever, Portuguese water dog, Spanish water dog, Swedish Lapphund, Toy Poodle, Yorkshire Terrier
            
        
        HSP Test-Specific Data
Generatio GmbH Center for Animal Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Generatio GmbH Center for Animal Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            prcd
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
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