Progressive Retinaatrophie (pd-PRA)
Progressive retinal atrophy (pd-PRA)
General description
Onset of photoreceptor loss is around 5 weeks of age with severe loss by 16 weeks of age. In affected cats, uncoordinated eye movement is often observed, as well as owner-reported increased eye-shine (tapetal reflectivity) as thinning of the retina progresses.
Breeds
Birman (Sacred cat of Burma), British Longhair, British Shorthair (BSH), Chartreux, Exotic Shorthair, Himalayan, Kartäuser, Persian, Ragdoll, Russian Blue, Scottish Fold Longhair, Scottish Fold Shorthair, Selkirk Rex Longhair, Selkirk Rex Shorthair, Turkish Angora
Order details
| Test number | 8593 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | AIPL1 |
| Mutation | C-T |
| Literature | OMIA:001222-9685 |
Detailed description
Persian cats have a demonstrated form of progressive retinal atrophy (PRA-pd). Onset of photoreceptor loss is around 5 weeks of age with severe loss by 16 weeks of age. In affected cats, uncoordinated eye movement is often observed, as well as owner-reported increased eye-shine (tapetal reflectivity) as thinning of the retina progresses. Corneal thinning is not observed. Cats with one normal and one mutated gene (carriers) have Retinal Pigment Epithelium changes but maintain normal vision without photoreceptor loss.
