Progressive Retinaatrophie (pap-PRA1)
Progressive retinal atrophy (pap-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
Papillon, Phalène
Order details
| Test number | 8573 |
| Abbreviation | PAP-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 |
| Causality | causally |
| Gene | CNGB1 |
| Mutation | INS |
| Literature | OMIA:002723-9615 |
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 in Papillons and Phalènes show a wide range in age of onset maybe due to different genetic background or environmental influences. The known genetic variant explains about 70% of PRA affected dogs. So, one assumes that at least one further mutation is involved in PRA genesis.
