The disease is reminiscent
of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities.
Not exact matches
If a dog has only
choroidal hypoplasia sometimes the natural pigment in the back
of the eye hides its presence.
The result is the percentage
of collies affected with
choroidal hypoplasia remains high, but the severe grades
of the disease (colobomas and retinal detachments) have decreased due to this conscientious breeding.
Border Collie breeders are usually very proactive in testing for the genetic diseases Collie Eye Anomaly /
Choroidal Hypoplasia, Neuronal Ceroid Lipofuscinosis and Trapped Neutrophil Syndrome, but you should check with your breeder before buying a Border Collie on the status
of their dogs for genetic diseases.
Collie Eye Anomaly (CEA)-- a complex
of congenital defects including
choroidal hypoplasia, also called chorioretinal dysplasia — a thinning
of the vascular tissue within the eye), optic disc coloboma / staphloma — incomplete development
of the optic nerve where it enters the eye, and retinal dysplasia or detachment — sections
of retina, the vision reception tissue, that are not properly attached to the wall
of the eye.
All dogs with CEA have bilateral
choroidal hypoplasia (CH), also called chorioretinal dysplasia, a thinning
of the vascular tissue in the back
of the eye which does not significantly impair vision.
Ultimately he discovered that the recessive nature
of the disease is due to a single gene
of major effect that causes
choroidal hypoplasia, the primary CEA defect.
Examples
of the latter might include:
choroidal hypoplasia in breeds not previously identified as having Collie Eye Anomaly, optic nerve colobomas, microphthalmia, multi-focal retinopathy in breeds not yet recognized as having CMR mutations, etc..
However, first
of all, you have to examine pups very carefully from a very young age (starting by 5 - 6 weeks postnatal) to detect all the ones that «go normal», as some pups exhibiting unmistakeable
choroidal hypoplasia by 6 weeks old, will have no ophthalmoscopically detectable lesions by 9 weeks old.