Progressive retinal atrophy (cord1/crd4-PRA)
Progressive retinal atrophy (cord1/crd4-PRA)
General description
Cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors. The first ophthalmoscopic signs may appear at the age of six month. However, some genetically affected dogs never develop clinical symptoms during their life. \nThe correlation between the known genetic variant and the symptoms of the disease is a matter of an ongoing scientific debate.
Breeds
Beagle, Bolonka Zwetna, Clumber Spaniel, Curly Coated Retriever, Dachshund (Dackel), English Springer Spaniel, French Bulldog, Long-Haired Dachshund, Short-Haired Dachshund, Wire-Haired Dachshund
Order details
| Test number | 8128 |
| Abbreviation | cord1/crd4-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 |
| Inheritance | autosomal recessive |
| Age of onset | ab 6 months |
| Causality | scientifically not clearly clarified |
| Gene | RPGRIP1 |
| Mutation | INS |
| Literature | OMIA:001432-9615 |
Detailed description
The “Cone-rod” dystrophy is a variant of the progressive retinal atrophy leading to degeneration of the retina.\nIn contrast to rod-cone dystrophies, where rod cells are affected first and the following degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors.\nThe first ophthalmoscopic signs may appear at the age of six month. However, some genetically affected dogs never develop clinical symptoms during their life. \nThe correlation between the known genetic variant and the symptoms of the disease is a matter of an ongoing scientific debate.
