Progressive retinal atrophy with neurodegeneration (PCYT2 deficiency)

LABOKLIN Service ID: 8879

A genetic variant of the PCYT2 gene has been found to be associated with a syndromic disease that combines blindness and neurodegeneration in the breed Saarloos Wolfhond.
Affected dogs suffer from early adult-onset retinal degeneration. The ophthalmological findings are consistent with generalized progressive retinal atrophy (PRA), with first clinical signs being observable between 20 and 46 months of age. Moreover, affected dogs show adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes, especially aggression towards the owner. Additionally, epileptic seizures were reported in some cases.
Affected dogs often have to be euthanized because of progression of the neurological signs and impaired quality of life.

Method	sequencing
Breed list	Saarloos Wolfhond
Heredity	autosomal recessive
Duration	1-2 weeks after arrival of the sample in the lab