Description: Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders. PRA in dogs is the human equivalent of retinis pigmentosa (RP) and is characterized by vision loss due to progressive degeneration and cell death of photoreceptors in the retina. PRA affects more than a hundred dog breeds, but not all causative mutations are known. Clinical findings in PRA include progressive loss of vision and attenuation of retinal blood vessels resulting from degeneration of the photoreceptor layer of the retina. This degenerative disease leads to a progressive loss of vision (at night and then in daylight) until complete blindness. There are several forms of PRA in Miniature Schnauzer, differing in age of onset and gender prevalence (PRA B, PRA A). Until recently, the causative gene for PRA B was thought to be PPT1, but the penetrance of this mutation was only 79%, leaving a large proportion of PRA B cases unexplained. In 2020, Kaukonen et al. analyzed Miniature Schnauzers affected by PRA and found that there are 2 types of PRA B – PRA B1 linked to the HIVEP3 gene accounting for most cases and PRA B2 is linked to the X chromosome (currently no known mutation).
Inheritance: autosomal recessive
Mutation: g.1,432,293G>A in HIVEP3 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Miniature Schnauzer
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