R317 Retinitis Pigmentosa (RP1)

R317 Categories: ,

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Breed:  Aberdeen Angus, Belgian Blue, Charolais, Holstein, Maine-Anjou, Gelbvieh, Normande
Sample material:  Blood EDTA, Blood Heparin, Hair, Semen, Tissue


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Retinitis Pigmentosa (RP) is a degenerative eye disorder that causes the gradual death of the cells of the retinas, resulting in a loss of vision. In cattle, a variant of this disorder is caused by a recessive mutation to the gene RP1. This variant is found in multiple European breeds such as the Aberdeen Angus, Belgian Blue and Charolais.


Chromosome: 14

Gene: RP1

Mode of Inheritance: Autosomal Recessive

Also known as: RP1

Organ: Sensory organs

Sub-organ: Eye


Year published: 2016

Clinical Features

Symptoms of RP in cattle typically start with loss of night vision due to degeneration of rod-photoreceptors, followed by degeneration of cone-photoreceptors leading to loss of central vision and eventually to complete blindness.


Omia: 2029

Pubmed: 27510606