Progressive Retinal Atrophy (prcd-PRA)
Code: H704
Short description
Progressive rod–cone degeneration (PRCD) is one of the many disorders grouped with progressive retinal atrophy (PRA).
General information
Progressive rod–cone degeneration (PRCD) is one of the many disorders grouped with progressive retinal atrophy (PRA). Prcd is a late-onset, autosomal recessive photoreceptor degeneration caused by a mutation in the PRCD-gene.
Specifications
| Breeds | Barbet, Biewer Terrier, Chinese Crested, Norwegian Elkhound (Black), Norwegian Elkhound (Grey), Poodle (Miniature), Poodle (Standard), Poodle (Toy), Portuguese Podengo, Schnauzer (Giant), Schnauzer (Miniature), American Cocker Spaniel, Australian Cattle Dog, Australian Labradoodle, Australian Shepherd, Australian stumpy tail cattle dog, Black Russian Terrier, Chesapeake Bay Retriever, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian Bear Dog, Kuvasz, Labrador Retriever, Lapponian Herder, Miniature American Shepherd, Nova Scotia Duck Tolling Retriever, Portuguese Water Dog, Spanish Water Dog, Swedish Lapphund, Yorkshire Terrier |
|---|---|
| Gene | PRCD |
| Chromosome | 9 |
| Mutation | c.5G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | prcd; PRA |
Clinical features
Loss of night vision and progressive loss of day vision. During bilateral fundus examination it is common to find changes such as pigmentation, vascular changes, hyperreflexia, and optic nerve atrophy. These changes can already be found during an early stage of the disease.
Additional information
This test is based on an association study.
References
Pubmed ID: 16938425
Year published: 2006
Omia ID: 1298
Omia variant ID:
Turnaround information
- 15 working days