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X-Linked PRA (Samoyed/Husky Type) Overview

X-Linked PRA (Samoyed/Husky Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: Retinitis pigmentosa GTPase regulator (RPGR) on Chromosome X

Variant Detected: Nucleotide Deletion c.1028-1032delGAGAA c.1084-1085delGA

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal X-Linked

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. Electroretinography (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.  The ERG can be a very good screening test for puppies that may have an early onset form of PRA. Several breeds have a form of PRA that is X-linked.  X-linked diseases are located on the X chromosome, which means they are mostly seen in male animals.  This is because males have only one copy of the X chromosome, and therefore only require one parent to carry the genetic mutation in order to develop the disease.  An affected female offspring would require a (carrier) female parent and an affected male parent to both contribute the mutation in question to develop an X-linked disease. XLPRA1 is caused by an error in the coding of the RPGR gene, which results in the production of a faulty protein and eventual degeneration of photoreceptors. Siberian huskies and Samoyeds are affected by this particular genetic form of X-linked PRA, and will show night blindness by about 2 - 4 years of age.  This will be followed by a slow progression to full blindness in bright light. Serial eye exams are required to detect the early signs of PRA.  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. Genetic screening of all breeding animals prior to entering into a breeding program (e.g. at 1 year of age) 2. Examination by a specialist veterinary ophthalmologist at the puppy eye exam then annually from 1 year of age.

Research Citation(s): Zhang Q, et al. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. (2002) Hum Mol Genet 11(9);993-1003.

Associated Breed(s): Samoyed,  Siberian Husky,  Mixed Breed,