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Dog hereditary diseases

DSD120
Progressive retinal atrophy type B1
PRA B1
10
Dogs
PRA B
Hereditary diseases
Autosomal recessive inheritance.
HIVEP3
N
M
Miniature schnauzer
Individual breeds
Degenerative changes occur in photoreceptor cells (rods and cones.) The main and first clinical sign is a decrease in visual acuity in low light, at dusk and in the dark, the so-called nyctalopia (night blindness or night blindness) - rods, light-sensitive cells are the first to be affected. Mydriasis is also observed. With subsequent cone damage, vision loss progresses. The dog does not experience pain. Affected animals may not show signs until they are 3–5 years of age or older. A new mutation associated with progressive retinal atrophy has been found in the HIVEP3 gene. Studies have shown that at the moment in the breed of miniature schnauzers, two forms of PRA are common - early, "severe", leading to complete blindness at the age of 5 years, and late, "mild", the symptoms of which appear after 7 years of the animal's life, with partial preservation vision *. An early-onset form of progressive retinal atrophy showed 100% correlation with a point mutation in the HIVEP3 gene. (A previously tested mutation in the PPT1 gene was found homozygous in healthy animals, which casts doubt on its significance).