Cone-Rod Dystrophy I - PRA (crd -4/cord I)

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

RPGR interacting protein 1 (RPGRIP1) on chromosome 15

Variant Detected:

Nucleotide Insertion c.338-339InsA(29)GGAAGCAACAGGATG p.Thr59STOP (frameshift and premature stop codon)

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 with Incomplete Penetrance

Recommended Screening:

1. DNA test all breeding animals prior to entering into breeding program (e.g. at 1 year of age) 2. Examination by a specialist veterinary ophthalmologist beginning with the puppy eye exam and then annually from 1 year of age.

Research Citation(s):

Mellersh CS, et al. Canine RPGRIP1 mutation establishes cone–rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (2006) Genomics, 88(3);293-301.

Associated Breed(s):

American Bulldog , American Bully (Micro/Pocket/Classic/XL), Australian Cobberdog, Australian Labradoodle , Beagle, Boston Bulldog, Curly Coated Retriever, Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, English Springer Spaniel, French Bulldog, Kaninchen Dachshund, Labradoodle , Labradoodle Retrodoodle , Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed, Papillon, Pembroke Welsh Corgi, Short Bully, Spoodle,