Progressive Retinaatrophie (rdAc-PRA)
Progressive retinal atrophy (rdAc-PRA)
General description
Affected cats have normal vision at birth with degeneration first detected by electroretinographic (ERG) exam at about seven months of age. Vision loss progresses slowly and is variable, with most cats becoming blind by usually 3-5 years of age
Breeds
Abyssinian, American Curl Longhair, American Curl Shorthair, American Wirehair, Balinese, Bengal (Leopard cat), Cornish Rex, Himalayan, Javanese, Munchkin, Ocicat, Oriental Shorthair (OSH), Peterbald, Siamese, Singapura, Somali, Thai, Tonkinese
Order details
| Test number | 8117 |
| Abbreviation | rdAc-PRA |
| 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 | 1.5-2 years |
| Causality | causally |
| Gene | CEP290 |
| Mutation | A-C |
| Literature | OMIA:001244-9685 |
Detailed description
The late onset photoreceptor degeneration rdAC-PRA is a genetic disorder that causes the degeneration of retinal cells in the eye: In the early stage of the disease rod cells are affected, later degeneration of the cone cells results in complete blindness of the cat. Affected cats have normal vision at birth. The age of onset of clinical symptoms is typically at the age of 1.5-2 years. At the end stage of disease complete photoreceptor degeneration and blindness is observed, usually at the age of 3-5 years.
