The U.S. registration organization, CERF, reported the incidence in the U.S.
of choroidal hypoplasia, optic disc / nerve coloboma and retinal detachment among several affected breeds over the period of 1991 to 1999.
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.
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.
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.
Due to the «masked affected» phenomenon, in which the developing tapetum pigmentation obscures areas
of choroidal hypoplasia, it is vital that all puppies be checked at a young age, certainly no later than 8 weeks, preferably sooner.
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..
(The eye anomaly «merle» can be confused
with choroidal hypoplasia, primarily in dogs from merle to merle breeding and whose coat color is whiter than their littermates.
The most common defect is
choroidal hypoplasia (CH), also called chorioretinal dysplasia, a thinning of the vascular tissue that lies between the retina and the wall of the eyeball.
Tests Included in this deal:
Choroidal hypoplasia, CEA, CH Achromatopsia, Day blindness, Hemeralopia, Rod monochromacy, CD Canine degenerative myelopathy, DM Early onset cataracts, Juvenile cataracts, HC, HSF4, JC Urolithiasis, HUU Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1 Canine multifocal retinopathy 1, CMR1 Amaurotic idiocy, Batten disease, NCL, NCL6 PRA - PRCD, PRCD
The essential features,
choroidal hypoplasia and coloboma, are congenital — the abnormalities develop as the eye develops.
The primary problem is
choroidal hypoplasia (CH).
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.
While 15 % of the dogs tested had at least one copy of
the choroidal hypoplasia mutation, it is important to remember that the only dogs likely to be tested are those who are at risk of being carriers.
Choroidal hypoplasia (CH,) the most common CEA defect, is present in all affected dogs.
Most the affected offspring in these litters had
choroidal hypoplasia.
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.
The earlier DNA tests, like the one for Collie Eye Anomaly —
Choroidal Hypoplasia (CEA - CH) focused on recessive mutations.
Choroidal hypoplasia is the most common CEA lesion.
CEA is present at birth but
the choroidal hypoplasia may be masked by pigment as the puppy ages (the «go normal» phenomenon.)
The most common eye defect in dogs with CEA is
choroidal hypoplasia (CH, called chorioretinal dysplasia in Europe.)
The good news for breeders is that
the choroidal hypoplasia gene is key.
Choroidal hypoplasia or choriodal colobomas may also be seen.
Examples of the latter might include: cataracts,
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..
We report genetic studies establishing that the primary cea phenotype,
choroidal hypoplasia, segregates as an autosomal recessive trait with nearly 100 % penetrance.
The disease is reminiscent of
the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities.