Progressive Retinaatrophie (rdy-PRA)
Progressive retinal atrophy (rdy-PRA)
General description
Cats carrying one copy of this mutation have retarded development and degeneration of photoreceptor cells, which leads to early-onset blindness by 7 weeks of age
Breeds
Abyssinian, Ocicat, Somali
Order details
| Test number | 8469 |
| Abbreviation | rdy-PRA |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 3 weeks |
| Causality | causally |
| Gene | CRX |
| Mutation | A-C |
| Literature | OMIA:001244-9685 |
Detailed description
A different form of blindness called “rod cone dysplasia”, or “Rdy” has also been identified in Abyssinian and Somali cats. The mutation is a single base pair deletion in a different gene, CRX, which also results in a defective protein that is critical for eye development. Cats carrying one copy of this mutation have retarded development and degeneration of photoreceptor cells, which leads to early-onset blindness by 7 weeks of age.
