Progressive retinal atrophy (rcd4-PRA)
Progressive retinal atrophy (rcd4-PRA)
General description
The Progressive Retinal Atrophy(PRA) leads to a degeneration of the retina and results in blindness. The Rod-cone-dysplasia type 4 (rcd4)-PRA is characterised as a Late Onset PRA (LOPRA). Night blindness is a typical first symptom of the disease.
Breeds
Australian Cattle Dog, Bolonka Zwetna, English Setter, Gordon Setter, Irish Red Setter, Irish Red and White Setter, Kleiner Münsterländer, Miniature Poodle, Old Danish Pointing Dog, Polish Lowland Sheepdog (PON), Poodle, Tatra Shepherd Dog, Tibetan Terrier, Toy Poodle
Order details
| Test number | 8435 |
| Abbreviation | rcd4-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 | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
Detailed description
Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. \n\nThe Rod-cone-dysplasia type 4 (rcd4-PRA) -PRA is characterised as a Late Onset PRA (LOPRA). Night blindness is a typical first symptom of the disease, usually seen at the age of 5-12 years. The rcd4-PRA initially has been identified in the breed Gordon Setter, but also has been found in several other breeds so far. \n\nPlease note that besides to the rcd4-PRA, there are other PRA forms known to cause visual impairement in several of the described breeds. \n
