Progressive Retinal Atrophy, X-Linked 1 (Husky Type)

General Information: Progressive Retinal Atrophy, X-linked 1 (XLPRA1) in Siberian Huskies and Samoyeds is characterized by the degeneration of photoreceptor cells in the retina, crucial for both dim and bright light vision. Symptoms often start subtly with night blindness due to the initial loss of rod cells responsible for low-light vision, followed by peripheral vision loss. As the disease progresses, cone cells, which are essential for daylight and color vision, also degenerate, leading to complete blindness. Dogs may first exhibit detectable changes on an electroretinogram by one year of age, though visible signs of vision loss may not appear until they are older than two years. This condition is more severe and progresses faster in males due to its X-linked inheritance pattern.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the RPGR gene is critical for identifying carriers of Progressive Retinal Atrophy, X-linked 1 (XLPRA1), an eye condition inherited via an X-linked recessive pattern. This means male dogs need only one mutated copy of the gene from their mother to express the disease, whereas females require two copies, one from each parent. Male offspring of a carrier female have a 50% chance of inheriting the disease, making the identification of carrier females vital. To prevent the propagation of this disorder, breeding practices must avoid mating carriers, particularly where there is a risk of producing affected male offspring. Such responsible breeding decisions, supported by reliable genetic testing, are essential to reduce the prevalence of this debilitating condition in future generations, ensuring the health and viability of the breed.