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Generalised PRA 1 Overview

Generalised PRA 1
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
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Category: Ophthalmologic (Associated with the Eyes)

Gene: SLC4A3

Variant Detected: Base Insertion

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Progressive retinal atrophy Golden Retriever type 1 (GR1-PRA) is an eye disorder, which belongs in progressive retinal atrophy group of disorders. Progressive retinal atrophy (PRA) comprises autosomal recessively inherited diseases that lead to degeneration of retinal photoreceptor cells in dogs and other pets. There are more than 20 mutations responsible for specific forms of PRA, and some breeds, including Golden Retrievers, can be affected by more than only one form of PRA. Progressive retinal atrophy Golden Retriever type 1 (GR1-PRA) is a late-onset form of PRA affecting the Labrador retriever breed. The clinical signs occur in affected dog between 6 to 7 years of age in average, but it can vary among individual dogs. As other forms of PRA, the first symptoms of progressive retinal atrophy Golden Retriever type 1 (GR1-PRA) are poor vision in dim light, which eventually progresses into complete blindness. Other than GR1-PRA, there are also other forms of PRA affecting the Golden Retrievers. Those are GR2-PRA and PRA-PRCD, mutation responsible for PRA-PRCD appears to be very rare among Golden Retriever breed.

Research Citation(s): Downs LM, Wallin-Hakansson B, Boursnell M, Marklund S, Hedhammar A, Truve K, Hubinette L, Lindblad-Toh K, Bergstrom T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011;6(6):e21452

Associated Breed(s): Golden Retriever,  Goldendoodle,  Mixed Breed,  Groodle,