Collie eye anomaly (CEA) is a

congenital A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

, inherited, bilateral eye

disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...

of dogs, which affects the

retina The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which the ...

choroid The choroid, also known as the choroidea or choroid coat, is a part of the uvea, the vascular layer of the eye, and contains connective tissues, and lies between the retina and the sclera. The human choroid is thickest at the far extreme rea ...

, and

sclera The sclera, also known as the white of the eye or, in older literature, as the tunica albuginea oculi, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some crucial elastic fiber. In humans, and so ...

. It can be a mild disease or cause blindness. CEA is caused by a simple

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...

recessive gene In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

defect. There is no treatment.

Affected breeds

It is known to occur in

Collie Collies form a distinctive type of herding dogs, including many related landraces and standardized breeds. The type originated in Scotland and Northern England. Collies are medium-sized, fairly lightly-built dogs, with pointed snouts. Man ...

s ( smooth and rough collies),

Shetland Sheepdog The Shetland Sheepdog, often known as the Sheltie, is a breed of herding dog that originated in the Shetland Islands of Scotland. The original name was ''Shetland Collie,'' but this caused controversy amongst Rough Collie breeders of the time, so ...

Australian Shepherd The Australian Shepherd is a breed of herding dog from the United States. The name of the breed is technically a misnomer, as it was developed in California in the 19th century; the breed was unknown in Australia at the time. It is claimed that A ...

Border Collie The Border Collie is a Scottish breed of herding dog of medium size. Widely considered to be the most intelligent dog breed, they are descended from landrace sheepdogs once found all over the British Isles, but became standardised in the Ang ...

s, Lancashire Heelers, and Nova Scotia Duck Tolling Retrievers. Frequency is high in Collies and Shetland Sheepdogs, and low in Border Collies and NSDTRs. In the

United States The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country Continental United States, primarily located in North America. It consists of 50 U.S. state, states, a Washington, D.C., ...

, incidence in the

genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...

of collies has been estimated to be as high as 95 percent, with a

phenotypic In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological pr ...

incidence of 80 to 85 percent.

Pathogenesis

CEA is caused by improper development of the eye. Failure of the cells of the posterior portion of the

optic vesicles The eyes begin to develop as a pair of diverticula (pouches) from the lateral aspects of the forebrain. These diverticula make their appearance before the closure of the anterior end of the neural tube; after the closure of the tube around the 4t ...

to express

growth hormone Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in ...

affects the differentiation of other cells of the eye. The choroid, especially lateral to the

optic disc The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye. The ganglion cell axons form ...

, is

hypoplastic Hypoplasia (from Ancient Greek :wikt:ὑπό, ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.coloboma A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is presen ...

, or hole, may form in or near the optic disc due to a failed closure of

embryo An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male spe ...

nic tissue. The degree of these abnormalities varies between individual dogs, and even between the same dog's eyes. CEA is inherited as an autosomal recessive trait that has a

penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is t ...

reaching 100 percent, and has been localized to canine chromosome 37.

Signs

The most common sign of CEA is the presence of an area of undeveloped choroid (appearing as a pale spot) lateral to the optic disc. The choroid is a collection of blood vessels supplying the retina. CEA can also cause retinal or scleral coloboma, coloboma of the optic disc,

retinal detachment Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blin ...

, or intraocular hemorrhage. It can be diagnosed by

fundoscopy Ophthalmoscopy, also called funduscopy, is a test that allows a health professional to see inside the fundus of the eye and other structures using an ophthalmoscope (or funduscope). It is done as part of an eye examination and may be done as part ...

by the age of six or seven weeks. Severe cases may be blind.

Breeding and testing

Controversies exist around eliminating this disorder from breeding Collies. Some

veterinarian A veterinarian (vet), also known as a veterinary surgeon or veterinary physician, is a medical professional who practices veterinary medicine. They manage a wide range of health conditions and injuries in non-human animals. Along with this, vet ...

s advocate only breeding dogs with no evidence of disease, but this would eliminate a large portion of potential breeding stock. Because of this, others recommend only breeding mildly affected dogs, but this would never completely eradicate the condition. Also, mild cases of choroidal hypoplasia may become pigmented and therefore undiagnosable by the age of three to seven months. If puppies are not checked for CEA before this happens, they may be mistaken for normal and bred as such. Checking for CEA by seven weeks of age can eliminate this possibility. Diagnosis is also difficult in dogs with

coat A coat typically is an outer garment for the upper body as worn by either gender for warmth or fashion. Coats typically have long sleeves and are open down the front and closing by means of buttons, zippers, hook-and-loop fasteners, toggles, ...

s of dilute color because lack of pigment in the choroid of these animals can be confused with choroidal hypoplasia. Also, because of the lack of choroidal pigment, mild choroidal hypoplasia is difficult to see, and therefore cases of CEA may be missed. Until recently, the only way to know if a dog was a

carrier Carrier may refer to: Entertainment * ''Carrier'' (album), a 2013 album by The Dodos * ''Carrier'' (board game), a South Pacific World War II board game * ''Carrier'' (TV series), a ten-part documentary miniseries that aired on PBS in April 20 ...

was for it to produce an affected puppy. However, a genetic test for CEA became available at the beginning of 2005, developed by the Baker Institute for Animal Health,

Cornell University Cornell University is a private statutory land-grant research university based in Ithaca, New York. It is a member of the Ivy League. Founded in 1865 by Ezra Cornell and Andrew Dickson White, Cornell was founded with the intention to tea ...

, and administered throug
OptiGen
The test can determine whether a dog is affected, a carrier, or clear, and is therefore a useful tool in determining a particular dog's suitability for breeding.

References

{{Reflist

External links

Informational website for CEA
Dog diseases