Progressive Retinaatrophie (g-PRA)
Progressive retinal atrophy (g-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
Schapendoes
Order details
| Test number | 8451 |
| Abbreviation | g-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 | 6 years |
| Causality | causally |
| Gene | CCDC66 |
| Mutation | INS |
| Literature | OMIA:001521-9615 |
Detailed description
The progressive retinal atrophy (PRA) is an inherited eye disorder leading to a degeneration of the photoreceptor cells of the retina. Fundus changes are bilateral and symmetrical. Initially,a loss of function of the rod cells is observed proceeding in night blindness and decreased adaptation of vision. In the final stage, degeneration of the cone cells results in complete blindness. The onset of the diseases varies between different breeds but is often not diagnosed before the age of six.
