Retinopathy

Find out if your Swedish Vallhund could develop Retinopathy at CAGT.

UK only
CODE RET-MERTK
Categories ,
Breed(s)
OMIA OMIA001932-9615
Aliases

Results from this test will be reported as detailed in the Registry Reporting list.

Overview

Retinopathy in the Swedish Vallhund is a unique type of retinal degeneration in dogs, and differs from other progressive retinal atrophies described in dogs. The age of onset and rate of progression vary considerably. In the early stages of disease vision remains normal, but it progresses first to signs of night-blindness and eventually impaired day vision as well.

Autosomal Recessive

The line insertion in the gene called MERKT that causes Retinopathy in Swedish Vallhunds is recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop Retinopathy during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop Retinopathy as a result of the MERKT mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop Retinopathy should be the breeder’s priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target.

Carriers can be bred from safely, provided they are mated to a dog that has also been tested and is clear of the MERKT mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers, so should be tested themselves prior to breeding. Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with MERKT , and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.

Gene MERTK
Variant Intronic LINE-1 insertion
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Low-Moderate: Affected animals experience discomfort or dysfunction of some kind, but life expectancy is not affected.
Publication

Ahonen SJ, M Arumilli, E Seppala et al. (2014) Increased expression of MERTK is associated with a unique form of canine retinopathy. PLoS One. 9(12): e114552 . DOI: 10.1371/journal.pone.0114552.

Everson R, L Pettitt, OP Forman et al. (2017) An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One. 12(8): e0183021 . DOI: 10.1371/journal.pone.0183021.