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Retinal Degeneration

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Test Overview:

Retinal degeneration affects dogs and is an inherited eye disease. Retinal Degeneration usually presents with poor vision and night blindness. Affected dogs may appear to move more cautiously than their littermates and have a tendency to bump into objects. This disease occurs as a result of abnormal development and degeneration of Photoreceptor Cells (Rod and Cone Cells) of the Retina, which are responsible for sensing light and transmitting signals to the brain, resulting in vision. Additional testing such as electroretinography (ERG) to confrim diagnosis.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

STK38L

Variant Detected:

chr27:20447905-20447906: 229 bp insertion; chr27:20447906-20447920: 15 bp duplication (dup GGAAACAGAGTTCTT)

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 STK38L gene will reliably determine if a dog is a genetic carrier of Retinal Degeneration.

Research Citation(s):

Acland GM, Aguirre GD. Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res. 1987 Apr;44(4):491-521. [PubMed: 3496233] Berta ÁI, Boesze-Battaglia K, Genini S, Goldstein O, O'Brien PJ, Szél Á, Acland GM, Beltran WA, Aguirre GD. Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One. 2011; 6(9):e24074. [PubMed: 21980341] Goldstein O, Kukekova AV, Aguirre GD, Acland GM. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics. 2010 Dec; 96(6):362-8. [PubMed: 20887780]

Associated Breed(s):

Mixed Breed,
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