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Progressive Retinal Atrophy crd
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 in this breed
GTPs
General
Disease Name
Progressive Retinal Atrophy crd
OMIA
1455
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Test Type
Genetic Disease/Disorder
Details
Cone-rod dystrophy (CRD) is a type of PRA which first affects the cones in the retina, so initially results in day blindness for sufferers, and then the rods begin degenerating secondarily. Age of initial CRD (NHPH4) onset for affected dogs varied between 10 months to 3 years, with complete retinal atrophy observed by 6 years old.
Details 2
Clinical diagnosis should be made by a veterinary ophthalmologist using the methods of indirect ophthalmoscopy and/or electroretinography, although this can only observe affected dogs after symptoms have developed and will never detect the symptomless carriers. Cone-rod dystrophy (CRD) is a type of PRA which first affects the cones in the retina, so initially results in day blindness for sufferers, and then the rods begin degenerating secondarily.The NPHP4 gene was found to be shorter in all of the clinically PRA affected dogs. The age of initial CRD (NHPH4) onset for affected dogs varied between 10 months to 3 years, with complete retinal atrophy observed by 6 years old.
Published
Wiik, AC., Thoresen, SI., Wade, C., Lindblad-Toh, K., Lingaas, F. : A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund. Anim Genet 40:572-4, 2009. Pubmed reference: 19392817. DOI: 10.1111/j.1365-2052.2009.01877.x.
Body/System/Process
Eye
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Standard Wire-haired Dachshund, Miniature Wire-haired Dachshund
