Progressive retinal atrophy / PRA5 (NECAP1-related) - Giant Schnauzer

What does this test examine?

This genetic test analyses the NECAP1 c.544G>A in the Giant Schnauzer. The condition is known as progressive retinal atrophy / PRA, PRA5, NECAP1-PRA and progressive retinal degeneration. This form is mainly described as a later-onset PRA in which first signs can appear around adulthood.

What does this condition mean?

Progressive retinal atrophy is a group name for inherited retinal diseases in which photoreceptors gradually degenerate. It often starts with night blindness or uncertainty in dim light, followed by loss of daytime vision and possible blindness. Typical signs include night blindness, uncertainty in the dark, reduced orientation and ultimately severe vision loss or blindness.

• Clear: the dog does not carry the tested variant or marker.
• Carrier: the dog carries one copy and can pass it on.
• Affected: two copies cause the tested inherited PRA risk.

Practical value of this test

This test is useful for breeders and owners who want to include inherited eye health in breeding decisions. Because PRA often becomes visible later, DNA information can clarify carrier status, affected genotypes and risk combinations before breeding age.

• Supports targeted breeding plans and mate selection.
• Helps identify carriers before the variant spreads unnoticed through a line.
• Separates clear dogs, carriers and dogs with the affected genotype.
• Gives clear information for vision follow-up, lines and family history.

Inheritance and interpretation

The trait is inherited in an autosomal recessive manner. A carrier is usually not affected, but can pass the variant on. When two carriers are bred together, some offspring can inherit two copies and receive the affected genotype. PRA is genetically heterogeneous; this test gives specific information about NECAP1-PRA/PRA5.