Progressive retinal atrophy (crd3-PRA)

General description

The retinal function of very young affected dogs is still normal. But at the age of 12-24 months, the cone and later also the rod photoreceptor cells begin to degenerate. Difficulties avoiding obstacles in dimlight are typical first signs of this disease. The degeneration of the photoreceptors progresses and results in complete blindness after several years.

Breeds

Irish Glen of Imaal Terrier

Order details
Test number8691
Abbreviationcrd3-PRA
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onset12-24 months
Causalitycausally
GeneADAM9
MutationDEL
LiteratureOMIA:001520-9615
Detailed description

At the breed Irish Glen of Imaal Terrier, a variant of the ADAM9 gene has been found to correlate with cone-rod dystrophia (crd3). The retinal function of very young affected dogs is still normal. But at the age of 12-24 months, the cone and later also the rod photoreceptor cells begin to degenerate. Difficulties avoiding obstacles in dimlight are typical first signs of this disease. The degeneration of the photoreceptors progresses and results in complete blindness after several years. At ophthalmoscopic examinations, this type of PRA often not becomes evident until the age of 3-5 years.


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