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motor impairment
the dogs with rcd2 defect are functionally blind
occur at around 3 months of age and include dysmetric and hypermetric cerebellar ataxia
Disease is caused by deficiency of pyruvate dehydrogenase phosphatase 1
This has an effect that only low concentration of cystine is found in urine
Progressive Retinaatrophie (PRA-NECAP1) Katzen motor impairmentCanine progressive retinal atrophies (PRA) are genetically heterogeneous diseases caused by several mutations and affect more than 100 dog breeds. The disease primarily affects photoreceptors initially, leading to night blindness. As the disease progresses, impairment of daylight vision and eventually complete blindness occurs. In Giant Schnauzer, the clinical symptoms occur at approximately four years of age. A missense variant in NECAP1 gene has
