Progressive Retinal Atrophy, Cone-rod Dystrophy (Dachshund Type)

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Nephrocystin 4 (NPHP4) on Chromosome 5

Variant Detected:

Nucleotide Deletion g.62913591–62913770del (exon 5/intron 5)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the NPHP4 gene will reliably determine if a dog is a genetic carrier of Progressive Retinal Atrophy crd SWD.

Research Citation(s):

Wiik AC, et al. A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. (2008) Gen Res 18(9);1415-1421.

Associated Breed(s):

Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Kaninchen Dachshund, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,