Collie Eye Anomaly (Choroidal Hypoplasia)

Abnormal development of the choroid (a layer of tissue under the retina of the eye)

Symptoms
Variability of clinical signs according to the breed and individuals: - grade 1 and 2: mild form, without disablement and evolution - grade 3 and 4: severe form with retinal detachment and intraocular haemorrhage, might cause blindness

Gene involved
NHEJ1

Mutation tested
c.588+462_588+8260del77 99bp (CEA)

Transmission mode : Autosomal recessive

Publication : Parker et al. (2007). Breed relationships facilitate fine-mapping studies:A 7.8-kb deletion cosegregates with Collie eyeanomaly across multiple dog breeds.