Progressive retinal atrophy (MERTK-PRA)
Progressive retinal atrophy (MERTK-PRA)
General description
A mutation in the MERTK gene was identified in the breed Swedish Vallhund (Västgötaspets) to cause progressive retinal athropy (PRA). The age of onset and severity of symptoms varies, so a large variability in age of diagnosis (as early as 1.1 years and as late as 12.6 years) has been reported.
Breeds
Swedish Vallhund (Västgötaspets)
Order details
| Test number | 8861 |
| Abbreviation | MERTK-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 | 1.1-12.6 years |
| Causality | causally |
| Gene | MERTK |
| Mutation | COMPLEX |
| Literature | OMIA:001932-9615 |
Detailed description
Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. While there are PRA mutations that are shared by multiple breeds, many seem to be private to a single breed or are found in breeds sharing similar ancestral backgrounds. Typical signs found by ophthalmoscopic examination are widespread tapetal hyper-reflectivity and retinal vascular attenuation. Genetic testing complements clinical eye examinations with the advantage of detecting known PRA mutations before breeding age or before clinical signs present.
A mutation in the MERTK gene was identified in the breed Swedish Vallhund (Västgötaspets) to cause PRA. The age of onset and severity of symptoms varies, so a large variability in age of diagnosis (as early as 1.1 years and as late as 12.6 years) has been reported.
