Progressive Retinal Atrophy (pd-PRA) – Cat
Kodas: K401
Short description
Progressive Retinal Atrophy (pd-PRA), also known as Leber Congenital Amaurosis (LCA), or Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and ultimately blindness.
General information
Progressive Retinal Atrophy (pd-PRA), also known as Leber Congenital Amaurosis (LCA), or Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and ultimately blindness. This variant of the disease is caused by a recessive mutation to the gene AIPL and is observed in the Persian cat.
Specifications
| Breeds | British Longhair, Exotic Longhair, Exotic Shorthair, Himalayan, Napoleon, British Shorthair, Persian |
|---|---|
| Gene | AIPL1 |
| Chromosome | E1 |
| Mutation | c.577C>T |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LCA |
Clinical features
Affected cats begin showing signs of vision loss, starting with reduced pupillary reflexes, as early as two or three weeks of age. The disease is progressive, and by the age of approximately 17 weeks, affected cats are likely to be almost totally blind.
References
Pubmed ID: 27030474
Year published: 2016
Omia ID: 1222
Omia variant ID:
Turnaround information
- 10 working days