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Retinopathy

General

Disease Name
Retinopathy
OMIA
-43
Gene Name
unpublished
Mutation
unpublished
Test Type
Genetic Disease/Disorder
Details
Retinopathy in the Swedish Vallhund is a form of progressive retinal atrophy that has a very variable age of onset. "A previous study showed an association with a region of DNA containing a gene in which mutations have been shown to cause retinal degeneration in humans and rodents. Following on from this study, the Animal Health Trust has identified a mutation that is very strongly associated with retinopathy in the Swedish Vallhund...The Swedish Vallhund retinopathy mutation appears to be very common in the sample sets that we have studied from both the UK and Finland. However, due to the non-random ascertainment of the sample collections used in our research study, we cannot currently give an accurate estimation of the frequency of the mutation. Following the launch of the test we will work with the breed to obtain an estimate of the frequency of this mutation in the Swedish Vallhund...The disorder appears to show an autosomal recessive mode of inheritance. This means that a dog will only develop the disease, associated with the mutation being tested, if it has two copies of the associated mutation (one inherited from each parent)... Our test only detects this specific mutation; there maybe additional forms of retinopathy in the Swedish Vallhund that are caused by different mutations. These cannot be detected by this test." [From the Animal Health Trust]
Published
No test/mutation publication information.
Body/System/Process
Eye
Inheritance
AR
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