Progressive retinal atrophy / erd-PRA (STK38L-related) - Norwegian Elkhound

What does this test examine?

This genetic test analyses the STK38L variant SINE insertion in exon 4 in the Norwegian Elkhound. The condition is known as early retinal degeneration / ERD / erd-PRA / PRA-STK38L. The result shows whether the dog carries zero, one or two copies of the tested variant.

Progressive retinal atrophy (PRA) is a group of inherited retinal diseases in which photoreceptor cells gradually lose function. In this test, the relevant cause is in the STK38L gene, allowing a specific breed-related PRA risk to be identified.

What does this condition mean?

This form starts very early. Reduced night vision, general visual impairment and rapid retinal degeneration can become visible during the first weeks to months of life, followed by severe vision loss at a young age.

Early signs can be subtle: reduced vision in dim light, hesitancy in unfamiliar spaces, difficulty avoiding obstacles and later loss of day vision. DNA testing identifies the inherited status before visible signs appear or before a breeding combination is chosen.

Inheritance and result

The trait is autosomal recessive. The result gives a lifelong genetic status for the tested variant.

• N/N - no copy of the tested variant detected.
• N/ins - one copy of the tested variant detected.
• ins/ins - two copies of the tested variant detected.

Practical value of this test

This test is valuable because erd-PRA can occur at a young age. The result helps breeders avoid risk matings before a litter is planned and gives owners clear information when early vision loss is known in the line.

• Helps breeders include inherited eye health in selection and mating plans.
• Identifies hidden carriers or genetically positive dogs before they are used for breeding.
• Reduces the risk of puppies with a predictable inherited PRA predisposition.
• Gives owners and breeders clear information for family screening, line management and eye-health follow-up.
• Supports transparent communication when selling, buying or selecting breeding animals.