Progressive Retinaatrophie (CNGA1-PRA)
Progressive retinal atrophy (CNGA1-PRA)
General description
The Progressive Retinal Atrophy(PRA) leads to a degeneration of the retina and results in blindness. Syptoms typically get more severe over time.
Breeds
Shetland Sheepdog (Sheltie)
Order details
| Test number | 8375 |
| Abbreviation | CNGA1-PRA |
| 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 | 2 years |
| Causality | causally |
| Gene | CNGA1 |
| Mutation | DEL |
| Literature | OMIA:001977-9615 |
Detailed description
The genetically inherited progressive retinal atrophy causes a degeneration of the retina by loss in function of the sensory cells and results in blindness. First symptoms of PRA affected Shetland Sheepdogs can be diagnosed at about two years of age. Another eye-disease in this breed, the so-called slow progressing retinopathy (SRP) exhibits similar symptoms initially. Ophthalmologic differentiation is possible through ERG only at that stage. Apart from the mutation in the CNGA1-gene additional causative mutations for PRA might exist in Shetland Sheepdogs.
