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.