Progressive retinal atrophy / pd-PRA / LCA (AIPL1-related) - Cat

pd-PRA / Leber congenital amaurosis in cats

This DNA test assesses the AIPL1 variant c.577C>T that causes pd-PRA / Leber congenital amaurosis. The disorder is also known as pd-PRA, Leber congenital amaurosis, LCA, retinal pigment epithelial dystrophy and progressive retinal atrophy. Progressive retinal atrophy is an inherited retinal disorder in which light-sensitive cells gradually lose function.

Affected kittens can show reduced vision very early in life, including abnormal pupil responses. The disorder is progressive and can lead to severe visual loss within the first months of life.

How to read the result

• Clear: the tested variant is not detected; the cat will not pass on this variant.
• Carrier: the cat carries one copy; for recessive PRA forms, the cat remains clear because of this variant but can pass it on.
• Affected: two copies cause this form of progressive retinal disease and provide clear breeding-risk information.

Practical value of this test

• confirms whether a cat is clear, carrier or genetically affected for this specific variant;
• identifies carriers reliably, even when they have normal vision;
• supports breeding selection, mating plans and reducing affected offspring.