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Progressive Retinal Atrophy - erd (Norwegian Elkhound Type)

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Description:

Early Retinal Degeneration (ERD) is an inherited eye disease affecting Norwegian Elkhounds. 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 specific 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:

Serine/threonine kinase 38 like (STK38L) on Chromosome 27

Variant Detected:

Nucleotide Insertion 234 bp SINE repeat insertion in exon 4 including a 15 nt duplication

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Goldstein O, et al. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). (2010) Genomics 96(6):362-368.

Associated Breed(s):

Mixed Breed, Norwegian Elkhound,