Collie Eye Anomaly (CEA/CH)
Breed: Boykin Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Relevance Rating: All current evidence indicates that the test is not meaningful or recommended in this breed
GTPs
General
Disease Name
Collie Eye Anomaly (CEA/CH)
OMIA
218
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Mutation Notes
reports of test offered as a marker by some GTPs
Test Type
Genetic Disease/Disorder
Details
CEA/CH causes abnormal development of the choroid - an important layer of tissue under the retina of the eye. Since the choroid layer does not develop normally from the start, the primary abnormality can be diagnosed at a very young age by an opthamologist. The clinical effects vary greatly among affected dogs within one breed, between parent and offspring and even within a litter. Most often the disease presents as a mild form in affected dogs and the presence of the disease can only be detected upon ophthalmologic examination; the dog retains normal vision throughout life. However, dogs with mild disease can produce severely affected offspring. The severe forms can result in serious vision loss or blindness in some cases. Inheritance of CEA/CH is approximately autosomal recessive. In some cases, the phenotype can vary to include colobomas and staphylomas in the optic nerve head and adjacent tissues ? which may be the only visible abnormality. This has led to some adult dogs in this category being termed so-called ?go normals?. The term ?go normal? has been applied to cases where post-natal development obscures the choroidal hypoplasia which is the key diagnostic feature, so that adult dogs have ?normal? appearance despite being genotypically affected. The phenomenon is common enough that many ophthalmologists recommend clinical examination to be focused on puppies/young dogs. This suggests other factors may have an effect on CEA/CH expression, i.e. that the disorder is multifactorial.
Details 2
Collie eye anomaly (CEA) is a congenital, inherited ocular disorder affecting retinal, choroidal, and scleral development, which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination. However, in addition to choroidal hypoplasia, colobomas and staphylomas of the optic nerve head and adjacent tissues are considered part of the extended phenotype and can be the only visible abnormality - particularly as the dog ages. Given the challenges of diagnosis, many ophthalmologists recommend a clinical eye examination as early as possible (ie at five to six weeks of age), so that it is diagnosed clinically with greatest accuracy. Breeding advice for removing this disease from a breed tends to recommend a combined effort of litter screening (to identify clinically affected dogs), with DNA testing (for aid in breeding planning/prediction).
Patents/ Licences
Patents: Cornell Research Foundation, Inc. Licenses: Optigen - US, CA, Europe. (please note that patent and licensing laws and coverage vary by country)
Published
Parker, H.G., Kukekova, A.V., Akey, D.T., Goldstein, O., Kirkness, E.F., Baysac, K.C., Mosher, D.S., Aguirre, G.D., Acland, G.M., Ostrander, E.A. : Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res 17:1562-71, 2007. Pubmed reference: 17916641. DOI: 10.1101/gr.6772807
Published 2
Lowe, JK., Kukekova, AV., Kirkness, EF., Langlois, MC., Aguirre, GD., Acland, GM., Ostrander, EA. : Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86-95, 2003. Pubmed reference: 12809679.
Published 3
Brown, E.A., Thomasy, S.M., Murphy, C.J., Bannasch, D.L. :Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vet Ophthalmol :, 2017. Pubmed reference: 28702949. DOI: 10.1111/vop.12488.
Published 4
Fredholm, M., Larsen, R.C., Jönsson, M., Söderlund, M.A., Hardon, T., Proschowsky, H.F. : Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs. Anim Genet 47:250-2, 2016. Pubmed reference: 26732749. DOI: 10.1111/age.12405.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Australian Shepherd, Border Collie, Boykin Spaniel, Lancashire heeler, Longhaired whippet, Nova Scotia Duck Tolling retriever, Rough Collie, Shetland Sheepdog, Silken windhound, Smooth Collie
Breed-specific 1
Danish Rough Collie
Breed-specific 1 Details
Danish Rough Collie: Fredholm et al. (2016) reported that the deletion in NHEJ1 is not predictive for CH [choroidal hypoplasia] in the Danish Rough Collie population, despite appearing to be the same disease. It could be that the intronic deletion in NHEJ
Breed-specific 2
Nova Scotia Duck Tolling Retriever
Breed-specific 2 Details
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
choroidal hypoplasia
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
choroidal hypoplasia
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Nature of test
mutation test
FCI Number
-33
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
choroidal hypoplasia
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Nature of test
mutation test
This test is outsourced to:
Laboklin S.I.A. and Optigen
FCI Number
-33
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
choroidal hypoplasia
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CEA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del
Mutation Comment
g.25698028_25705826del
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
choroidal hypoplasia
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
This test is outsourced to:
outsourced for patent reasons
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
NHEJ1
Mutation
c.588+462_588+8260del7799bp
Key Comment