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Progressive Retinal Atrophy, Cone-Rod Dystrophy 3 (Glen of Imaal Terrier Type)*

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Test Overview:

Progressive Retinal Atrophy, Cone-Rod Dystrophy 3 (PRA-crd3) is an adult-onset inherited eye disease affecting Glen of Imaal Terriers. PRA-crd3 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. Dogs affected with this disorder initially have changes in reflectivity and appearance of a structure behind the retina called the Tapetum that is typically observed on a veterinary eye exam at 3 years of age. Between 3 and 5 years of age, affected dogs show signs of vision loss in dim light (night blindness) and loss of peripheral vision. Gradually visual deficits progress to complete vision loss over several years.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

ADAM9

Variant Detected:

chr16:26431182-26471957: 40 kb deletion

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 ADAM9 gene in Glen of Imaal Terriers will reliably determine if a dog is a genetic carrier of PRA-crd3.

Research Citation(s):

Goldstein O, Mezey JG, Boyko AR, Gao C, Wang W, Bustamante CD, Anguish LJ, Jordan JA, Pearce-Kelling SE, Aguirre GD, Acland GM. An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis. 2010 Aug 11;16:1549-69. [PubMed: 20806078] Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G. Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes. 2010 Dec;24(6):357-63. [PubMed: 20691256]

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