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Progressive Retinal Atrophy 3 Overview

Progressive Retinal Atrophy 3
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: Family with sequence similarity 161 member A (FAM161A) on Chromosome 10

Variant Detected: Nucleotide Insertion 230 bp SINE Insertion

Severity: Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

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. Rod-cone dysplasia type 3 is due to a mutation in the alpha subunit of cGMP phosphodiesterase, which results in this enzyme becoming non-functional.  Highly elevated levels of cGMP results in the abnormal development of photoreceptors, followed by an early onset degeneration of rods (responsible for vision in low light) and then cones (which allow for vision in bright light and sunlight).  Photoreceptors are generally completely lost by early adulthood, resulting in total blindness.  This form of PRA affects Cardigan and Pembroke Welsh corgis.  A genetic test is available for rcd3-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)

Research Citation(s): Downs LM. et al. An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers (2014) PLoS One 9(4)e93990.