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Retinal Degeneration (Norwegian Elkhound Type)

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Test Overview:

Early retinal degeneration (ERD) is an inherited eye disease affecting dogs. ERD usually presents at 3 to 10 weeks of age as general poor vision and night blindness. Affected puppies may appear to move more cautiously than littermates and have a tendency to bump into objects. ERD 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. The disease initially progresses rapidly, but progression slows after 6 months of age. Dogs become totally blind between 12 to 18 months of age. Between 4-5 years of age, affected dogs also develop cataracts.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

STK38L

Variant Detected:

15 bp duplication (dup GGAAACAGAGTTCTT), 229 bp insertion

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

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, Norwegian Elkhound,

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