Atrophie progressive de la rétine (CNGA1-PRA)

The Progressive Retinal Atrophy(PRA) leads to a degeneration of the retina and results in...plus
Disease
The genetically inherited progressive retinal atrophy causes a degeneration of the retina by loss in function of the sensory cells and results in blindness. First symptoms of PRA affected Shetland Sheepdogs can be diagnosed at about two years of age. Another eye-disease in this breed, the so-called slow progressing retinopathy (SRP) exhibits similar symptoms initially. Ophthalmologic differentiation is possible through ERG only at that stage. Apart from the mutation in the CNGA1-gene additional causative mutations for PRA might exist in Shetland Sheepdogs.
Breed
Chien de berger des shetland (Sheltie)
Heredity
autosomal recessive
Test duration
3-5 days after arrival of the sample in the lab (in case of sequencing 1-2 weeks)
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