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Cone Degeneration (German Shepherd Dog Type)

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Test Overview:

Cone Degeneration in German Shepherds, also known as Progressive Retinal Atrophy (PRA), specifically the cone-rod dystrophy type, is a genetic condition that leads to a gradual loss of vision due to the degeneration of cone cells in the retina. Cone cells are responsible for daylight and color vision, while rod cells are responsible for night vision. In German Shepherds, Cone Degeneration often begins with symptoms such as difficulty seeing in bright light, abnormal responses to light, and potential issues with color discrimination. As the disease progresses, it may lead to reduced visual acuity and ultimately blindness. This condition typically manifests early in a dog's life, with signs appearing within the first few years. Genetic testing for this specific type of PRA allows breeders and pet owners to determine whether a German Shepherd is a carrier or affected by the condition. Identifying carriers can help in making informed breeding decisions, while early detection in affected dogs can guide appropriate management strategies to improve the quality of life. Orivet offers genetic tests to detect mutations associated with Cone Degeneration in German Shepherds, allowing breeders and veterinarians to adopt proactive measures to reduce the risk of this hereditary condition in future generations.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGA3

Variant Detected:

missense c.1270C>T/p.(R424W) chr10

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

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/26407004/

Associated Breed(s):

German Shepherd Dog,

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