Breeds Affected: American Staffordshire Terrier
Samples Accepted: Blood, Buccal Swabs
Disease Information: Cone-Rod Dystrophy 1, also known as crd1, is a disease in which the cone and rod cells in the retina degenerate, leading to blindness. Clinical signs can be seen as early as 11 weeks of age, and full blindness results in early adulthood.
Test Information: This mutation test identifies a three base pair deletion in exon 21 of the PDE6B gene. Animals which have two copies of this allele are affected with crd1, and animals with one copy are clinically-normal carriers.
Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M.: IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci 54:7005-19, 2013. Pubmed reference: 24045995. DOI: 10.1167/iovs.13-12915.
Further information is available at the Online Mendelian Inheritance in Animals website.