X-Linked Progressive Retinal Atrophy 1, XL-PRA1

PRA is a subtle disease and dogs adapt very well to the slow loss of vision. You may notice that your dog is reluctant to go down the stairs, bumps into door frames or corners, or takes a longer time to fetch a toy.

This is a late onset form of PRA with first signs typically between 3-5 years of age.

Veterinarians use a focused light to examine the pupils. In affected dogs, the pupils will appear more dilated and slower to contract. Your vet may also use a lens to visualize the retina at the back of the eye to look for changes in the optic nerve or blood vessels. You may be referred to a veterinary ophthalmologist for a definitive diagnosis.

Currently, there is no definitive treatment for PRA. Supplements, including antioxidants, have been proposed for management of the disease, but have not been scientifically proven effective.

Talk to your vet about your dog’s PRA result so you can work together to plan their ongoing care and monitoring.

Schedule regular eye exams with your vet or a veterinary ophthalmologist to monitor for changes or complications such as cataracts.

If your dog’s vision changes, help them adjust by keeping furniture and routines consistent, using verbal cues, and keeping them on a leash in unfamiliar areas.

Products such as protective halos can also help dogs navigate safely if their vision declines.

This mutation was first described in the Samoyed.

Penetrance: This mutation has a sex-linked recessive inheritance pattern, which means that the gene is on the X chromosome. Females have two X chromosomes and must inherit two abnormal copies to be affected with this disease. Males have only one X chromosome and either have a normal copy of the gene or the mutation.

Gene

RPGR (Exon 15)

Inheritance type

X-linked recessive

Clinical category

Ophthalmologic

Citations

1. Zhang et al 2002

• Samoyed
• Siberian Husky
• Samoyed (Landrace)