Progressive Retinal Atrophy - Type A (Miniature Schnauzer Type) Overview
Mode Of Inheritance: Autosomal Dominant (with incomplete penetrance)
Category (main signs): Cardiorespiratory (Associated with the heart and lungs)
Breed(s) Affected: Boxer
Scientific Reference: Meurs et al; Human Genet (2010) Sep, 128 (3) 315-24
Arrythmogenic right ventricultar
Category: Ophthalmologic - Associated with the eyes and associated structures
Gene: Phosducin (PDC) on Chromosome 7
Variant Detected: Base Substitution c.244C>G p.Arg82Gly
Severity: Scale 2 has a low degree of severity. It has mild effects and generally does not pose any significant health concerns, or is easily managed.
Mode of Inheritance: Autosomal Recessive
Test Overview: Progressive retinal atrophy (PRA) is a collection of inherited diseases affecting the retina that cause blindness. Each breed exhibits a specific age of onset and pattern of inheritance, and the actual mechanism by which the retina loses function can vary. The result of almost all types of PRA is similar - generally an initial night blindness, with a slow deterioration of vision until the dog is completely blind. The age at which the dog becomes fully blind also varies, depending on the genetic disruption present and the breed. Affected eyes are not painful, unless complicated by a secondary problem, such as cataract or uveitis (inflammation due to a leaking cataract). Progressive retinal atrophy (PRA) has been classified in several different ways. The simplest of these is by age of onset. Early onset PRA occurs when the affected dog is night blind from birth, and generally is completely blind between 1 - 5 years of age. Late onset PRA is where the dog is night blind at some time over 1 year of age, and full blindness will occur at a somewhat later stage in life. Another is by the type of genetic abnormality causing the PRA. PRA may be inherited by recessive, dominant or sex-linked mechanisms in dogs. For many types of PRA in many breeds a DNA test is now available to allow for easy screening for the disease. Despite the complexity of the disease and its many forms, ultimately all forms have one thing in common – degeneration of the retina causing progressive loss of vision. DNA tests are not yet available for all affected breeds. And because breeds may also be prone to several forms of PRA (and not all may have a genetic test available) examination of the retina by a veterinary ophthalmologist remains a mainstay of the diagnostic testing regimen. In some breeds with a late onset PRA, serial eye examinations may be required before the signs of retinal degeneration become apparent. The electroretinogram (ERG) is a diagnostic test that the veterinary ophthalmologist may choose to use in some cases and is a very sensitive method of detecting loss of photoreceptor function. An ERG can be a very good screening test for puppies that may have an early onset form of PRA. The miniature Schnauzer suffers from a rare form of PRA called PRA type A. This was previously known as photoreceptor dysplasia, where there is a defect in the differentiation of the rods and cones after birth. This leads to a fairly rapid degeneration of the rods and cones, although vision is maintained for longer period of time than would be expected, often a number of years. Affected animals may not show signs until they are 3 - 5 years of age. Changes can often be seen on examination by a veterinary ophthalmologist after 3 years of age, but an electroretinogram (ERG) can detect the condition early in life, as the cellular changes occur much earlier. A DNA test is also available to allow for screening of breeding animals. This is thought to be an incompletely dominant or "partially dominant" trait - this is because some "carrier" animals can show signs of disease. There are at least two other forms of PRA in the breed, PRA type B and another as yet uncharacterised form or PRA. As with all dogs suffering from PRA, there is no cure. Dogs generally adapt quite well to blindness - especially when it develops gradually - as long as their surroundings remain familiar (e.g. furniture does not get rearranged, they do not move house etc). They should always be kept on a lead outside the yard, and care should be taken not to startle them. Balls containing bells (as an example) can be used as toys for mental stimulation.
Recommended Screening: 1. DNA test all breeding animals prior to entering into breeding program (e.g. at 1 year of age) 2. Examination by a specialist veterinary ophthalmologist at the puppy eye exam, including ERG. 3. Annual specialist eye exam (includes for other PRA types in this breed)
Research Citation(s): Zhang Q, et al. Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. (1998) Gene 215;231-239
Associated Breed(s): Miniature Schnauzer, Mixed Breed,