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Retinopathy (Vallhund Type)

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Test Overview:

Retinal Atrophy (Vallhund Type) affects dogs and is an inherited eye disease. This disease occurs due to degeneration of both Rod and Cone type Photoreceptor Cells of the Retina, which are important for vision in variable light. Affected dogs can first show evidence of this disease during an eye exam as early as 2 months of age. However, first signs of vision loss occur later and have been reported from 1 to 12 years of age. Rod type cells are affected first and dogs will initially have vision deficits in dim light (night blindness). Signs of progressive retinal atrophy on an eye exam involves changes in reflectivity and the appearance of a structure behind the retina called the Tapetum. The disease follows a variable progression, but most dogs will usually progress to complete blindness as early as 9 years of age.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

MERTK

Variant Detected:

6-8 kb insertion in intron 1

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the MERTK gene will reliably determine if a dog is a genetic carrier of Retinopathy.

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pubmed/28813472?dopt=Abstract Ahonen S. Canine Models of Human Vision Disorders: Identification of New Loci and Genes for Glaucoma and Retinal Degeneration [published doctoral dissertation]. 2014. Univ. of Helsinki. http://urn.fi/URN:ISBN:978-951-51-0303-1 Everson R, Pettit L, Forman OP, Dower-Tylee O, McLaughlin B, Ahonen S, Kaukonen M, Komaromy AM, Lohi H, Mellersh CS, Sansom J, Ricketts SL. An intronic LINE-1 insertion is MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One. 2017 Aug 16;12(8):e0183021. doi: 10.1371/journal.pone.0183021. eCollection 2017. [PubMed: 28813472]

Associated Breed(s):

Mixed Breed, Swedish Vallhund,

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