Progressive retinal atrophy / XLPRA1 (RPGR-related) - Samoyed / Siberian Husky

What does this test examine?

This genetic test analyses the RPGR deletion c.3416_3420del for progressive retinal atrophy / XLPRA1 / XL-PRA in the Samoyed and Siberian Husky. The variant is a small deletion in the X-linked RPGR gene. The result shows whether the tested deletion is absent, present in one copy or present in a genotype that is directly relevant in males.

What does this condition mean?

Progressive retinal atrophy (PRA) is a group of inherited retinal diseases in which photoreceptors gradually deteriorate. In XLPRA1, rod function is affected first, so night blindness and uncertainty in dim light can appear before broader vision loss develops.

Because this form is X-linked, sex matters for interpretation. Males have one X chromosome, so a male with the deletion on his X chromosome is genetically positive. Females with one copy are carriers and can pass the variant on; females with two copies have a clearly relevant genetic status. Severity and age of onset can vary.

Inheritance and result

The trait is X-linked incomplete dominant.

• N/N or N/Y - the tested RPGR deletion was not detected.
• N/del - one copy of the deletion was detected, mainly relevant for female carriers.
• del/del or del/Y - the genotype is genetically positive for the tested XLPRA1 variant.

Practical value of this test

This test helps breeders manage an X-linked eye disease before obvious clinical signs appear. It is especially useful for planning matings that avoid affected males and genetically positive puppies.

• Supports correct use of X-linked inheritance in breeding decisions.
• Identifies female carriers before breeding.
• Helps manage lines with PRA, night-blindness or related family history.
• Gives owners and buyers clear inherited eye-health information.
• Supports targeted family screening and transparent line management.