Retinitis pigmentosa 1 / RP1 (RP1-related) - Cattle

Retinitis pigmentosa 1 (RP1)

This DNA test detects the RP1 frameshift insertion g.22340665_22340666insA that causes retinitis pigmentosa 1 in cattle. The condition is also described as RP1, retinitis pigmentosa, progressive retinal degeneration and progressive blindness caused by photoreceptor degeneration.

In affected animals, rod and cone photoreceptors in the retina gradually degenerate. This often starts with poorer night vision and can progress to loss of central vision and eventually blindness.

Inheritance and meaning

RP1 is inherited as an autosomal recessive disorder. Carriers have one copy of the variant and usually remain visually normal, but can pass the variant on. Two copies cause progressive retinal degeneration.

Practical value of this test

• Breeding selection: identify carriers in breeds where the variant occurs.
• Risk reduction: prevent carrier-to-carrier matings.
• Health planning: connect the genetic result with observation of vision, behaviour and breeding history.