Progressive retinal atrophy (PRA) is a group of genetic diseases seen in certain breeds of dogs and, more rarely, cats. Similar to retinitis pigmentosa in humans, [1] it is characterized by the bilateral degeneration of the retina, causing progressive vision loss culminating in blindness. The condition in nearly all breeds is inherited as an autosomal recessive trait, with the exception of the Siberian Husky (inherited as an X chromosome linked trait) and the Bullmastiff (inherited as an autosomal dominant trait). [2] There is no treatment.
In general, PRAs are characterised by initial loss of rod photoreceptor cell function followed by that of the cones and for this reason night blindness is the first significant clinical sign for most dogs affected with PRA. As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells develop abnormally, and degenerative, where the cells develop normally but then degenerate during the dog's lifetime. [3]
Generalized PRA is the most common type and causes atrophy of all the neural retinal structures. Central progressive retinal atrophy (CPRA) is a different disease from PRA involving the retinal pigment epithelium (RPE), and is also known as retinal pigment epithelial dystrophy (RPED).
Commonly affected breeds: [4]
This type of PRA has an early onset of severe vision loss. It is caused by a defect in the gene for cGMP-phosphodiesterase, which leads to retinal levels of cyclic guanosine monophosphate ten times normal. [5]
This is caused by an abnormal development of both rod and cone cells. Dogs are initially night blind and then progress to day blindness.
This is a disease with normal rod and cone cell development but late onset degeneration of the rod cells that progresses to the cone cells. It is inherited as an autosomal recessive trait and has been linked to the ninth canine chromosome. [1]
This condition is linked to the X chromosome.
CPRA is also known as retinal pigment epithelial dystrophy (RPED). The cause of this condition is the loss of the retinal pigment epithelium's ability to effectively process the photoreceptor outer segment (POS) and subsequent accumulation of POS material in the RPE and loss of function. The loss of function of the RPE leads to photoreceptor degeneration. [5] Vitamin E deficiency may play a role in the development of CPRA. [8] It is characterized by accumulation of pigment spots in the retina surrounded by retinal atrophy and a mottled appearance of the pigmented nontapetal fundus. The pigmented spots eventually coalesce and fade as the atrophy of the retina increases. It is an inherited condition (in the Labrador Retriever it is inherited as an autosomal dominant trait with variable penetrance). [2] CPRA occurs in older dogs. Peripheral vision is retained for a long time. Vision is better in low light and better for moving or distant objects. Not all affected dogs go blind. Secondary cataracts are common.
It can also be found in the poodle varieties
There is another retinal disease in Briards known as hereditary retinal dysplasia. These dogs are night blind from birth, and day vision varies. Puppies affected often have nystagmus. It is also known as lipid retinopathy. [4]
Progressive vision loss in any dog in the absence of canine glaucoma or cataracts can be an indication of PRA. It usually starts with decreased vision at night, or nyctalopia. Other symptoms include dilated pupils and decreased pupillary light reflex. Fundoscopy to examine the retina will show shrinking of the blood vessels, decreased pigmentation of the nontapetal fundus, increased reflection from the tapetum due to thinning of the retina, and later in the disease a darkened, atrophied optic disc. Secondary cataract formation in the posterior portion of the lens can occur late in the disease. In these cases diagnosis of PRA may require electroretinography (ERG). For many breeds there are specific genetic tests of blood or buccal mucosa for PRA. [2]
Absent a genetic test, animals of breeds susceptible to PRA can be cleared of the disease only by the passage of time—that is, by living past the age at which PRA symptoms are typically apparent in their breed. Breeds in which the PRA gene is recessive may still be carriers of the gene and pass it on to their offspring, however, even if they lack symptoms, and it is also possible for onset of the disease to be later than expected, making this an imperfect test at best.
There is no treatment for PRA. However, most dogs that suffer from this disease adjust remarkably well. [9] To maximize the quality of the dog's life, follow these guidelines:
The Gordon Setter is a Scottish large breed of dog, a member of the setter family that also includes both the better-known Irish Setter and the English Setter. Setter breeds are classified as members of either the Sporting or Gundog Group depending on the national kennel club or council.
The Cavalier King Charles Spaniel (CKCS) is a British breed of toy dog of spaniel type. Four colours are recognised: Blenheim, tricolour (black/white/tan), black and tan, and ruby; the coat is smooth and silky. The lifespan is usually between eight and twelve years.
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
The Portuguese Water Dog originated from the Algarve region of Portugal. From there the breed expanded to all around Portugal's coast, where they were taught to herd fish into fishermen's nets, retrieve lost tackle or broken nets, and act as couriers from ship to ship, or ship to shore. Portuguese Water Dogs rode in fishing trawlers as they worked their way from the Atlantic waters of Portugal to the waters off the coast of Iceland fishing for cod.
The Nova Scotia Duck Tolling Retriever is a medium-sized gundog bred primarily for hunting. It is often referred to as a "toller". It is the smallest of the retrievers, and is often mistaken for a small Golden Retriever. Tollers are intelligent, eager to please, alert, and energetic. The name "toller" is derived from their ability to lure waterfowl within gunshot range. The breed originated in Yarmouth County, Nova Scotia, Canada. The American Kennel Club ranks the toller as the 87th most popular dog breed.
Macular degeneration, also known as age-related macular degeneration, is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur.
The Tibetan Spaniel is a breed of assertive, small dogs originating in Tibet. This breed is not a spaniel in the original meaning of the term; its breeding differs from other spaniels, and unlike true spaniels, which are gun dogs, the Tibetan spaniel is a companion dog. The spaniel name may have been given due to its resemblance to the bred-down lapdog versions of the hunting spaniels, such as the Cavalier King Charles spaniel.
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Polyneuropathy in dogs and cats is a collection of peripheral nerve disorders that often are breed-related in these animals. Polyneuropathy indicates that multiple nerves are involved, unlike mononeuropathy. Polyneuropathy usually involves motor nerve dysfunction, also known as lower motor neuron disease. Symptoms include decreased or absent reflexes and muscle tone, weakness, or paralysis. It often occurs in the rear legs and is bilateral. Most are chronic problems with a slow onset of symptoms, but some occur suddenly.
Sudden acquired retinal degeneration syndrome (SARDS) is a disease in dogs causing sudden blindness. It can occur in any breed, but female dogs may be predisposed. Approximately 4000 cases are seen in the United States annually.
Retinal dysplasia is an eye disease affecting the retina of animals and, less commonly, humans. It is usually a nonprogressive disease and can be caused by viral infections, drugs, vitamin A deficiency, or genetic defects. Retinal dysplasia is characterized by folds or rosettes of the retinal tissue.
Collie eye anomaly (CEA) is a congenital, inherited, bilateral eye disease of dogs, which affects the retina, choroid, and sclera. It can be a mild disease or cause blindness. CEA is caused by a simple autosomal recessive gene defect. There is no treatment.
Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The condition is characterized by yellow, slightly elevated, round structures similar to the yolk of an egg.
Retinitis is inflammation of the retina in the eye, which can permanently damage the retina and lead to blindness. The retina is the eye's "sensing" tissue. Retinitis may be caused by a number of different infectious agents. Its most common form, called retinitis pigmentosa, has a prevalence of one in every 2,500–7,000 people. This condition is one of the leading causes that leads to blindness in patients in the age range of 20–60 years old.
Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.
Cerebellar abiotrophy (CA), also called cerebellar cortical abiotrophy (CCA), is a genetic neurological disease in animals, best known to affect certain breeds of horses, dogs and cats. It can also develop in humans. It develops when the neurons known as Purkinje cells, located in the cerebellum of the brain, begin to die off. These cells affect balance and coordination. They have a critical role to play in the brain. The Purkinje layer allows communication between the granular and molecular cortical layers in the cerebellum. Put simply, without Purkinje cells, an animal loses its sense of space and distance, making balance and coordination difficult. People with damage to the cerebellum can experience symptoms like unsteady gait, poor muscle control, and trouble speaking or swallowing.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.
Canine glaucoma refers to a group of diseases in dogs that affect the optic nerve and involve a loss of retinal ganglion cells in a characteristic pattern. An intraocular pressure greater than 22 mmHg (2.9 kPa) is a significant risk factor for the development of glaucoma. Untreated glaucoma in dogs leads to permanent damage of the optic nerve and resultant visual field loss, which can progress to blindness.