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Collie Eye Anomaly

Genetic Test

Collie Eye Anomaly (CEA) is caused by abnormal eye development during fetal growth. If the cells of the optic vesicle fail to express growth factors properly, differentiation of other ocular cells is affected. Mutations in the NHEJ1 gene are identified as the cause. This genetic test screens for specific mutations related to Collie Eye Anomaly.

Disease Description

Collie Eye Anomaly is a congenital, hereditary bilateral eye disease affecting the retina, choroid, and cornea. Clinical signs range from mild impairments to complete blindness. The condition results from an autosomal recessive defect, where affected dogs inherit two mutated copies of the gene, one from each parent. Currently, there is no effective treatment.