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Progressive Retinal Atrophy; Swedish Vallhund
Breeds
Relevance Rating: There is strong evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy; Swedish Vallhund
OMIA
1932
Gene Name
MERTK
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.
Published 2
Cooper, A.E., Ahonen, S., Rowlan, J.S., Duncan, A., Seppälä, E.H., Vanhapelto, P., Lohi, H., Komáromy, A.M. : A novel form of progressive retinal atrophy in Swedish vallhund dogs. PLoS One 9:e106610, 2014. Pubmed reference: 25198798. DOI: 10.1371/journal.pone.0106610.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Swedish Vallhund
Breed-specific 1
Swedish Vallhund
Breed-specific 1 Details
Publication demonstrates strong association between mutation and disease in Swedish Valhund. No functional evidence presented. Everson et al., (2017) An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs
