Progressive retinal atrophy / PRA-GUCY2D (GUCY2D-related) - Pomeranian / German Spitz

What does this test examine?

This genetic test analyses the GUCY2D variant c.1598_1599insT in the Pomeranian / German Spitz. The condition is known as progressive retinal atrophy / PRA-GUCY2D / GUCY2D-related PRA. 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 GUCY2D gene, allowing a specific breed-related PRA risk to be identified.

What does this condition mean?

This GUCY2D-related PRA is an early-onset form. Puppies can develop night blindness, loss of day vision, dilated pupils, abnormal retinal reflection and eventually blindness at a very 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/insT - one copy of the tested variant detected.
• insT/insT - two copies of the tested variant detected.

Practical value of this test

Because this variant can cause severe vision problems early in life, the test is especially useful before breeding plans are made. Breeders can identify carriers, avoid risk matings and prevent puppies with a high genetic risk.

• 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.