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Progressive Retinal Atrophy (PRA) is a large group of inherited eye diseases that cause blindness in various breeds of dogs.
10 Arbeidsdager
Spesifikasjoner
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| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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| Chromosome | |
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Generell informasjon
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.
Kliniske egenskaper
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).
Tilleggsinformasjon
Referanser
Pubmed ID: 36872573
Omia ID: 2646