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Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinosis is a type of lysosomal storage disorder that results in accumulation of lysosomal storage bodies in the cells of many tissues of the affected animal. This leads to progressive degeneration of brain and eye cells and results in severe neurological impairment and early death. Affected dogs appear normal at birth, but begin to exhibit symptoms early in life – around 1- 2 years of age. The age of onset and severity of the disease can vary greatly among individual dogs. The symptoms include progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline and abnormal behavior. Visual impairment may occur. Due to the severity of the disease, affected Border Collies rarely survive beyond 26-28 months. There is no treatment or cure at this time.
It is important to understand a carrier is not affected by this disease but if bred with another carrier puppies will be affected. A mating between a carrier and a clear dog will result in some puppies being clear and others being carriers but no puppies will be affected. When both parents are clear all puppies will also be clear for this disease by parentage.
CEA is Collie Eye Anomaly/Choroidial Hypoplasia
Border Collies share Collie Eye Anomaly (CEA) with several other breeds – it’s not just a problem for Border Collies. CEA is more technically known as Choroidal Hypoplasia (CH). It is a recessively inherited eye disorder that causes abnormal development of the choroid - an important layer of tissue under the retina of the eye. Sadly there is no treatment or cure for CEA.
The symptoms and signs can vary greatly among affected dogs within one breed, between parent and offspring and even within a litter. The primary problem is choroidal hypoplasia (CH). There is under-development (hypoplasia) of the eye tissue layer called the choroid.
CEA can affect either one or both eyes. Complications of severe disease can lead to vision loss, although this disorder only rarely threatens total blindIn severely affected dogs, approximately 25% of dogs with CEA/CH, there are related problems with the health of the eye that can result in serious vision loss in some cases. Colobomas are seen at and near the optic nerve head as outpouchings or “pits” in the eye tissue layers. Colobomas can lead to secondary complications such as partial or complete retinal detachments and/or growth of new but abnormal blood vessels with hemorrhage – bleeding inside the eye. This happens in 5-10% of dogs with CEA/CH, generally by 2 years of age, and ness.
A dog with one mutant copy and one normal copy of the CEA/CH gene is a carrier – is heterozygous. A dog with two copies of the normal CEA/CH gene is homozygous normal.
It is important to understand a carrier is not affected by this disease but if bred with another carrier puppies will be affected. A mating between a carrier and a clear dog will result in some puppies being clear and others being carriers but no puppies will be affected. When both parents are clear all puppies will be clear by parentage.
TNS is Trapped Neutrophil Syndrome
TNS is an hereditary diesease where bone marrow produces neutrophils (white cells) but is unable to effectively release them into the blood stream. Affected puppies have an impaired immune system and will eventually die from infections they cannot fight.
Most affected puppies die or are euthanized by about 4 months of age.
It is important to understand a carrier is not affected by this disease but if bred with another carrier puppies will be affected. A mating between a carrier and a clear dog will result in some puppies being clear and others being carriers but no puppies will be affected. When both parents are clear all puppies will be clear by parentage.
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