Cone-rod dystrophy 1 (crd1-PRA)is a hereditary disease which can be tested with a DNA test. Most of canine retinal hereditary diseases with known causal mutations are rod-cone degenerations also known as progressive retinal atrophies (PRAs), which are characterized by progressive rod-led photoreceptor degeneration that is followed by cone photoreceptor demise. In contrast, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors. Crd1 usually affects very young dogs (less than 1-year old) and causes severe photopic and scotopic visual impairment, which can progress to complete blindness in early adulthood. Mutation causing crd1 has been observed in American Staffordshire Terrier dogs. Because American Staffordshire Terrier dogs and American Pit Bull Terrier dogs are closely related breeds and are sometimes crossbred it is possible that the same mutation also appears at American Pit Bull Terrier dogs.
Inheritance: autosomal recessive - read more
Mutation: PDE6B gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.