Collie Eye Anomaly
Other Names: Choroidal hypoplasia, CEA, CH
Affected Genes: NHEJ1
Inheritance: Autosomal Recessive With Variable Expressivity
Mutation: Deletion
Common Symptoms
Collie Eye Anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds including border collies. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the Retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal. The severity of the condition can vary from dog to dog. In mild cases, affected dogs may only show signs of collie eye anomaly on eye exam between about 5 and 12 weeks of age, just prior to normal, age-related pigmentation of the retina which often masks the characteristic, disease-related changes. After this time period, mildly affected dogs may be impossible to distinguish from normal dogs on eye exam (a phenomenon often referred to as “going normal”) and may not display obvious vision deficits. In more severely affected dogs, clinical signs include malformations of the eye and/or optic nerve (colobomas), retinal detachment, intraocular bleeding, and subsequent blindness. Both mild and severe forms of CEA are associated with the same NHEJ1 gene Mutation. Therefore, predicting the potential severity of the disease in an affected puppy is difficult as mildly affected parents may produce offspring that are severely affected.
Breed-Specific Information for the Border Collie
The Mutation of the NHEJ1 gene associated with collie eye anomaly has been identified in the border collie. Though the frequency of the gene mutation in the overall border collie population is unknown, in one study the disease prevalence in the United States, Great Britain and Switzerland was estimated to be 1-3%.
Degenerative Myelopathy
Other Names: Canine degenerative myelopathy, DM
Affected Genes: SOD1
Inheritance: Autosomal Recessive With Incomplete Penetrance
Mutation: Point Mutation
Common Symptoms
Degenerative Myelopathy is an inherited neurologic disorder caused by a Mutation of the SOD1 gene known to be carried by border collies. This mutation is found in many breeds of dog, though it is not clear for border collies whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the border collie, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.
Breed-Specific Information for the Border Collie
The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in the border collie. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for border collies. However, in one study of 80 Border collies tested, 8.8% were carriers and 12.5% were at-risk.
Intestinal Cobalamin Malabsorption (Border Collie Type)
Other Names: Cobalamin deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome, I-GS
Affected Genes: CUBN
Inheritance: Autosomal Recessive
Mutation: Deletion
Common Symptoms
Intestinal cobalamin malabsorption (border collie type) is an inherited disease affecting border collies. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.
Breed-Specific Information for the Border Collie
The Mutation of the CUBN gene associated with intestinal cobalamin malabsorption (border collie type) has been identified in the border collie. Though the exact frequency in the overall border collie population is unknown, 6.3% out of 95 clinically normal border collies were found to be carriers of the mutation.
Multidrug Resistance 1
Other Names: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1
Affected Genes: ABCB1
Inheritance: Autosomal Incomplete Dominant
Mutation: Deletion
Common Symptoms
Multidrug Resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs such as the Border Collie. The Mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.
*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine
In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance 1 carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.
Breed-Specific Information for the Border Collie
The Mutation of the ABCB1 gene associated with multidrug resistance 1 has been identified in the Border Collie. Though the exact frequency in the overall Border Collie population is unknown, in North America 1.3% out of 306 Border Collies were carriers and 0.3% were at-risk. In Europe, none of the 116 Border Collies tested in one study had inherited the mutation. Worldwide, the percentage of carriers ranges from 0% to 5% and the percentage of Border Collies at-risk for MDR1 ranges from 0% to 0.4%
Neuronal Ceroid Lipofuscinosis 5
Other Names: Amaurotic idiocy, Batten disease, NCL, NCL5
Affected Genes: CLN5
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Common Symptoms
Neuronal Ceroid Lipofuscinosis 5 (NCL5) is lysosomal storage disease affecting Border Collies. Affected dogs lack adequate activity of a specific Enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present between 15 and 20 months of age with signs of neurologic disease. Symptoms initially include behavioral changes, non-responsiveness to commands, loss of interest in play or other dogs, irrational fears, hallucinations, disorientation and aggression. Symptoms become more frequent and severe over time and may include Ataxia, falling, seizures, aimless wandering, abnormal gait, lethargy, and vision loss. Dogs with this disease rarely live beyond 32 months of age.
Breed-Specific Information for the Border Collie
The Mutation of the CLN5 gene associated with neuronal ceroid lipofuscinosis 5 has been identified in the Border Collie. Though the exact frequency in the overall Border Collie population is unknown, 8.1% out of 407 Border Collies from Japan were carriers of the mutation.
Sensory Neuropathy (Border Collie Type)
Other Names: SN
Affected Genes: FAM134B
Inheritance: Autosomal Recessive
Mutation: Complex Rearrangement
Common Symptoms
Sensory neuropathy is a progressive neurological disease affecting Border collies. Affected dogs present between two and seven months of age with clinical signs including Ataxia, abnormal gait, muscle Atrophy, knuckling of the paws, and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Affected dogs lose feeling in all limbs and develop an inability to recognize the position of their limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are often euthanized within 18 months of diagnosis due to quality of life concerns.
Breed-Specific Information for the Border Collie
The Mutation of the FAM134B gene associated with sensory neuropathy has been identified in the border collie, although its overall frequency in this breed is unknown.
Trapped Neutrophil Syndrome
Other Names: Cohen syndrome, TNS
Affected Genes: VPS13B
Inheritance: Autosomal Recessive
Mutation: Deletion
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Common Symptoms
Trapped Neutrophil Syndrome is an inherited disease affecting Border Collies. This disease affects the immune system and its ability to fight infection. Affected dogs most commonly present between the ages of 6-12 weeks with signs of immune dysfunction. Symptoms of the disease are dependent on the specific infection that the dog is fighting and may include failure to thrive, poor growth, weight loss, lethargy, diarrhea, and vomiting. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected puppies are often smaller than normal littermates and can have a narrow, elongated, ferret-like head. Occasionally affected dogs can be mildly affected and not show signs of disease until 1 to 2 years of age, but typically affected dogs die from an infection by four months of age.
Breed-Specific Information for the Border Collie
The Mutation of the VPS13B gene associated with trapped Neutrophil
Neutrophil
White blood cells that aid the immune system to fight bacteria and infection
syndrome has been identified in the Border Collie. Though the exact frequency of the causal mutation in the general Border Collie population is unknown, 12.9% out of 2094 Border Collies tested from Europe, USA, UK, Australia and Japan were carriers.
Other Names: Choroidal hypoplasia, CEA, CH
Affected Genes: NHEJ1
Inheritance: Autosomal Recessive With Variable Expressivity
Mutation: Deletion
Common Symptoms
Collie Eye Anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds including border collies. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the Retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal. The severity of the condition can vary from dog to dog. In mild cases, affected dogs may only show signs of collie eye anomaly on eye exam between about 5 and 12 weeks of age, just prior to normal, age-related pigmentation of the retina which often masks the characteristic, disease-related changes. After this time period, mildly affected dogs may be impossible to distinguish from normal dogs on eye exam (a phenomenon often referred to as “going normal”) and may not display obvious vision deficits. In more severely affected dogs, clinical signs include malformations of the eye and/or optic nerve (colobomas), retinal detachment, intraocular bleeding, and subsequent blindness. Both mild and severe forms of CEA are associated with the same NHEJ1 gene Mutation. Therefore, predicting the potential severity of the disease in an affected puppy is difficult as mildly affected parents may produce offspring that are severely affected.
Breed-Specific Information for the Border Collie
The Mutation of the NHEJ1 gene associated with collie eye anomaly has been identified in the border collie. Though the frequency of the gene mutation in the overall border collie population is unknown, in one study the disease prevalence in the United States, Great Britain and Switzerland was estimated to be 1-3%.
Degenerative Myelopathy
Other Names: Canine degenerative myelopathy, DM
Affected Genes: SOD1
Inheritance: Autosomal Recessive With Incomplete Penetrance
Mutation: Point Mutation
Common Symptoms
Degenerative Myelopathy is an inherited neurologic disorder caused by a Mutation of the SOD1 gene known to be carried by border collies. This mutation is found in many breeds of dog, though it is not clear for border collies whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the border collie, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.
Breed-Specific Information for the Border Collie
The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in the border collie. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for border collies. However, in one study of 80 Border collies tested, 8.8% were carriers and 12.5% were at-risk.
Intestinal Cobalamin Malabsorption (Border Collie Type)
Other Names: Cobalamin deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome, I-GS
Affected Genes: CUBN
Inheritance: Autosomal Recessive
Mutation: Deletion
Common Symptoms
Intestinal cobalamin malabsorption (border collie type) is an inherited disease affecting border collies. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.
Breed-Specific Information for the Border Collie
The Mutation of the CUBN gene associated with intestinal cobalamin malabsorption (border collie type) has been identified in the border collie. Though the exact frequency in the overall border collie population is unknown, 6.3% out of 95 clinically normal border collies were found to be carriers of the mutation.
Multidrug Resistance 1
Other Names: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1
Affected Genes: ABCB1
Inheritance: Autosomal Incomplete Dominant
Mutation: Deletion
Common Symptoms
Multidrug Resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs such as the Border Collie. The Mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.
*Drugs known to cause neurological signs related to the MDR1 mutation:
Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine
In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian prior to giving drugs to known multidrug resistance 1 carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.
Breed-Specific Information for the Border Collie
The Mutation of the ABCB1 gene associated with multidrug resistance 1 has been identified in the Border Collie. Though the exact frequency in the overall Border Collie population is unknown, in North America 1.3% out of 306 Border Collies were carriers and 0.3% were at-risk. In Europe, none of the 116 Border Collies tested in one study had inherited the mutation. Worldwide, the percentage of carriers ranges from 0% to 5% and the percentage of Border Collies at-risk for MDR1 ranges from 0% to 0.4%
Neuronal Ceroid Lipofuscinosis 5
Other Names: Amaurotic idiocy, Batten disease, NCL, NCL5
Affected Genes: CLN5
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Common Symptoms
Neuronal Ceroid Lipofuscinosis 5 (NCL5) is lysosomal storage disease affecting Border Collies. Affected dogs lack adequate activity of a specific Enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs typically present between 15 and 20 months of age with signs of neurologic disease. Symptoms initially include behavioral changes, non-responsiveness to commands, loss of interest in play or other dogs, irrational fears, hallucinations, disorientation and aggression. Symptoms become more frequent and severe over time and may include Ataxia, falling, seizures, aimless wandering, abnormal gait, lethargy, and vision loss. Dogs with this disease rarely live beyond 32 months of age.
Breed-Specific Information for the Border Collie
The Mutation of the CLN5 gene associated with neuronal ceroid lipofuscinosis 5 has been identified in the Border Collie. Though the exact frequency in the overall Border Collie population is unknown, 8.1% out of 407 Border Collies from Japan were carriers of the mutation.
Sensory Neuropathy (Border Collie Type)
Other Names: SN
Affected Genes: FAM134B
Inheritance: Autosomal Recessive
Mutation: Complex Rearrangement
Common Symptoms
Sensory neuropathy is a progressive neurological disease affecting Border collies. Affected dogs present between two and seven months of age with clinical signs including Ataxia, abnormal gait, muscle Atrophy, knuckling of the paws, and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Affected dogs lose feeling in all limbs and develop an inability to recognize the position of their limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are often euthanized within 18 months of diagnosis due to quality of life concerns.
Breed-Specific Information for the Border Collie
The Mutation of the FAM134B gene associated with sensory neuropathy has been identified in the border collie, although its overall frequency in this breed is unknown.
Trapped Neutrophil Syndrome
Other Names: Cohen syndrome, TNS
Affected Genes: VPS13B
Inheritance: Autosomal Recessive
Mutation: Deletion
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Common Symptoms
Trapped Neutrophil Syndrome is an inherited disease affecting Border Collies. This disease affects the immune system and its ability to fight infection. Affected dogs most commonly present between the ages of 6-12 weeks with signs of immune dysfunction. Symptoms of the disease are dependent on the specific infection that the dog is fighting and may include failure to thrive, poor growth, weight loss, lethargy, diarrhea, and vomiting. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected puppies are often smaller than normal littermates and can have a narrow, elongated, ferret-like head. Occasionally affected dogs can be mildly affected and not show signs of disease until 1 to 2 years of age, but typically affected dogs die from an infection by four months of age.
Breed-Specific Information for the Border Collie
The Mutation of the VPS13B gene associated with trapped Neutrophil
Neutrophil
White blood cells that aid the immune system to fight bacteria and infection
syndrome has been identified in the Border Collie. Though the exact frequency of the causal mutation in the general Border Collie population is unknown, 12.9% out of 2094 Border Collies tested from Europe, USA, UK, Australia and Japan were carriers.
