Progressive Retinal Atrophy (GUCY2D-PRA)
Kodas: H168
Short description
Progressive Retinal Atrophy (PRA) is a large group of inherited eye diseases that cause blindness in various breeds of dogs.
General information
Progressive Retinal Atrophy (PRA) is a large group of inherited eye diseases that cause blindness in various breeds of dogs. The blindness is caused by gradually degeneration of cells in the retina over time, causing a progressive loss of vision. This early-onset variant of the disease occurs in the German Spitz. It is caused by a recessive mutation to the guanylate cyclase 2D (GUCY2D gene), which is expressed in the retinal cells.
Specifications
| Breeds | |
|---|---|
| Gene | GUCY2D |
| Organ | Eye |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 5 |
| Also known as | PRA |
| Year Published | 2023 |
Clinical features
This variant of PRA begins with night blindness, progresses to daytime vision loss, and ultimately results in blindness in all light conditions by the age of 3 months. The puppies typically display bilateral mydriasis (dilated pupils), increased reflection from the eye's light-reflecting layer (tapetum lucidum) and thinning of the retinal blood vessels (atrophic retinal vascular network).
References
Pubmed ID: 36872573
Omia ID: 2646
Turnaround information
- 10 working days