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Progressive retinal atrophy with neurodegeneration (PCYT2 deficiency)

General description

A genetic variant of the PCYT2 gene has been found to be associated with a syndromic disease that combines blindness (PRA) and neurodegeneration in the breed Saarloos Wolfhond.

Breeds

Saarloos Wolfhond

Order details
Test number8879
AbbreviationPCYT2
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological, ophthalmic
Inheritanceautosomal recessive
Causalitycausally
GenePCYT2
MutationA-G
Detailed description

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.