collie eye anomaly

E938597

Collie eye anomaly is an inherited congenital eye disease in herding dog breeds that can cause vision impairment or blindness due to abnormal development of ocular structures.

All labels observed (1)

Label Occurrences
collie eye anomaly canonical 1

How this entity was disambiguated

Statements (48)

Predicate Object
instanceOf canine disease
congenital eye disease
hereditary eye disorder
affectedStructure choroid
optic disc
retina
sclera
affectsSpecies dog
ageOfOnset present at birth
alsoKnownAs CEA
choroidal hypoplasia
canCause blindness
vision impairment
causativeGene NHEJ1
causativeMutationType deletion
chromosomalLocation canine chromosome 37
classification non-progressive choroidal hypoplasia in many cases
congenital true
diagnosedBy fundus examination
genetic testing
indirect ophthalmoscopy
ophthalmic examination
examTimingRecommendation eye exam at 6–8 weeks of age
firstDescribedIn 20th century
geographicPrevalence worldwide in herding breeds
hereditaryStatus inherited
inheritancePattern autosomal recessive
managedBy veterinary ophthalmologist
modeOfTransmission both parents must carry mutation for affected offspring
possibleLesion coloboma
intraocular hemorrhage
retinal detachment
staphyloma
preventedBy selective breeding
primaryLesion choroidal hypoplasia
screeningRecommendedFor breeding dogs in at-risk breeds
severity mild
moderate
severe
treatmentForComplications surgery for retinal detachment in selected cases
treatmentForMildCases often not required
typicalBreed Australian Shepherd
Border Collie
Lancashire Heeler
Nova Scotia Duck Tolling Retriever
Rough Collie
Shetland Sheepdog
linked to: Shetland sheepdog

Smooth Collie

How these facts were elicited

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.

Border Collie geneticTestRecommendedFor collie eye anomaly