Progressive retinal atrophy / IFT122-PRA (IFT122-related) - Lapponian Herder

What does this test examine?

This genetic test analyses the IFT122 c.3176G>A variant in the Lapponian Herder. The disorder is described as progressive retinal atrophy, PRA, inherited retinal degeneration and IFT122-PRA, PRA-IFT122 and a Lapponian-Herder type of progressive retinal atrophy.

Progressive retinal atrophy is an inherited eye disorder in which photoreceptor cells in the retina gradually degenerate. Owners often first notice reduced vision in dim light or darkness, followed by progressive loss of daytime vision. The tested missense variant affects a protein involved in transport processes in photoreceptors.

What does this disorder mean?

Affected dogs mainly show slowly increasing night blindness, diffuse tapetal hyperreflectivity and narrowing of retinal blood vessels. Many dogs become clearly affected only in adulthood or older age; progression can be slow, but severe vision loss or blindness can eventually occur.

Practical value of this test

This DNA test is valuable because carriers usually look healthy and the first eye signs may appear only later in life. Testing before breeding allows breeders to distinguish clear dogs, carriers and genetically affected dogs, and to plan matings that do not produce affected puppies.

• Breeding selection: avoid unintended carrier-to-carrier matings while keeping useful lines available.
• Transparency: provide puppy buyers and other breeders with clear information about the tested PRA variant.
• Health planning: identify dogs with two copies early, so eye checks and follow-up can be planned more deliberately.

Because this form often becomes visible late, the DNA result helps guide breeding choices early and monitor families with increased risk more deliberately.