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Progressive Retinal Atrophy crd

General

Disease Name
Progressive Retinal Atrophy crd
Disease Name 2
Cone-Rod Dystrophy 1 (crd1)
OMIA
1455
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
OMIM
606996
Disease Code
CRD SWHD
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Cone Rod Dystrophy, PRA
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
Inheritance
AD
Gene Name Text
Nephrocystin 4
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