Progressive retinal atrophy (CNGA1-PRA)

LABOKLIN Service ID: 8375

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.

Method	TaqMan SNP assay, if necessary sequencing
Breed list	Shetland Sheepdog (Sheltie)
Heredity	autosomal recessive
Duration	3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)