Progressive Retinaatrophie (Bas-PRA1)
Progressive retinal atrophy (Bas-PRA1)
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
Basenji
Order details
| Test number | 8574 |
| Abbreviation | Bas-PRA1 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 years |
| Causality | causally |
| Gene | SAG |
| Mutation | T-C |
| Literature | OMIA:001876-9615 |
Detailed description
The progressive retinal athrophy (PRA) is an inherited eye disorder leading to a degeneration of the photoreceptor cells of the retina. Initially,a loss of function of the rod cells is observed proceeding in night blindness and decreased adaptation of vision. The PRA form which can be explained by the investigated mutation has an onset of about 5 years. The known genetic variant does not explain all PRA cases. So, one assumes that at least one further mutation is involved in PRA genesis.
