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Progressive Retinal Atrophy; Swedish Vallhund

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Progressive Retinal Atrophy; Swedish Vallhund
Mutation
g.36338043-36338057ins
Test Type
Genetic Disease/Disorder
Details
...A new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. (Cooper et al, 2014)
Details 2
...A new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. (Cooper et al, 2014)
Published
Everson, R., Pettitt, L., Forman, O.P., Dower-Tylee, O., McLaughlin, B., Ahonen, S., Kaukonen, M., Komáromy, A.M., Lohi, H., Mellersh, C.S., Sansom, J., Ricketts, S.L. : An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One 12:e0183021, 2017. Pubmed reference: 28813472. DOI: 10.1371/journal.pone.0183021.

Breed Specific Info

Breed-specific 1
Swedish Vallhund
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