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Progressive Retinal Atrophy (Shetland Sheepdog)

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Test Overview:

Progressive Retinal Atrophy (Shetland Sheepdog Type) affects dogs and is an adult-onset inherited eye disease. Progressive retinal atrophy (PRA) occurs as a result of degeneration of both Rod and Cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. In general, the rod type cells are affected first, and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs will continue to lose night vision and begin to show visual deficits in bright light. The reported average age of clinical diagnosis in dogs affected with this type of PRA is 5 years of age. However, this PRA type appears to have a wide range in age of onset with reports of clinical diagnosis from 2 to 11 years of age. Progressive Retinal Atrophy (Shetland Sheepdog) is characterised by visual impairment due to degeneration of the photoreceptors in the retina, usually leading to blindness. The disease can be subdivided by age at onset and rate of progression.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGA1

Variant Detected:

c.1752_1755delAACT

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CNGA1 gene will reliably determine if a dog is a genetic carrier of progressive retinal Atrophy (Shetland sheepdog type).

Research Citation(s):

Anim Genet. 2015 Jul 22. doi: 10.1111 Wiik AC, Ropstad EO, Ekesten B, Karlstam L, Wade CM, Lingaas F. Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet. 2015 Oct;46(5):515-21. [PubMed: 26202106]

Associated Breed(s):

Shetland Sheepdog,

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