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Collie Eye Anomaly DNA Test – Disorder Symptoms and Genetics
The collie eye anomaly (CEA) is an inherited eye disorder, which affects Rough and Smooth Collie, Border Collie and Shetland and Australian Shepherd. The disorder causes thinning of the choroid, a thin tissue in the eye which supplies the retina with the oxygen and nutritious compounds. As the symptoms of the disorder can vary in their severity, the collie eye anomaly can also retinal detachment, or even complete blindness. Some mildly to moderately CEA-affected dogs appear to retain their normal vision function throughout their life. Severely affected individuals, particularly those with colobomas, can develop retinal detachments leading to blindness. In these cases, subretinal and preretinal neovascularization and intraocular haemorrhage can occur.
Causative mutation is extremely widespread, and in some populations of rough and smooth collies the percentage of affected dogs is 70 to 97%, while among Border collies the affected rate is less than 10%. CEA inheritance is autosomal recessive with variable expression and pleomorphism (wide range in the clinical expression of the defect).
Dostál, J., Horák, P., Hrdlicová, A., and Stratil, A. (2010). Simplified PCR analysis of a mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds. Czech Journal of Animal Science 55, 346–350.
Lowe, J.K., Kukekova, A.V., Kirkness, E.F., Langlois, M.C., Aguirre, G.D., Acland, G.M., and Ostrander, E.A. (2003). Linkage mapping of the primary disease locus for collie eye anomaly☆. Genomics 82, 86–95.