Description PRA-BBS2: Progressive retinal atrophy (PRA) is an inherited disease that occurs in many breeds of dogs and manifests itself in various clinically more or less recognizable forms. The progressive degeneration of the rods and cones in the retina leads to progressive vision loss, which ends in complete blindness. In shelties, a new form of PRA called PRA-BBS2 with a phenotype such as retinis pigmentosa has been described. It is a form of PRA with a relatively late-onset. Less characteristic features such as unusual fur texture, dental abnormalities, upturned nose, increased appetite, obesity, chronic renal degeneration, kidney malfunctions or failure, etc. may also occur.

Inheritance: autosomal recessive

Mutation: c.1222G>C (p.A408P) in BBS2 (Bardet-Biedl syndrome 2) gene

 

 

Description PRA-shet (CNGA1): Progressive retinal atrophy (PRA) is a hereditary disease that occurs in many dog breeds and manifests in various clinically unrecognizable forms. The progressive degeneration of the rods and cones in the retina leads to a progressive loss of vision, which results in complete blindness. For shelties, a form of PRA called CNGA1-PRA has been described. On average, clinical symptoms manifest at the age of 5 years (2-11 years).

Inheritance: autosomal recessive

Mutation: c.1752_1755delAACT in exon 9 of the CNGA1 gene

 

Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes

The analysis is suitable for the following breeds: Shetland sheepdog

 

Notes: Analysis of both mutations c.1222G>C (p.A408P) in BBS2 (Bardet-Biedl syndrome 2) gene and c.1752_1755delAACT in exon 9 of the CNGA1 gene