BLIND_RP1 – Retinal pigmentary degeneration

Retinal pigmentary degeneration is characterized by the progressive death of photoreceptor cells. The disorder is manifested by degeneration of rods and cones in Normande Cattle and in most European breeds: Holstein-Friesian, Angus, Belgian Blue, Charolais, Maine-Anjou, Red Angus. The consequence of this process is lack of night vision and eventually total blindness.

Hereditary retinal degenerative disease is caused by a mutation in the RP1 gene region. An insertion of a base in the DNA sequence results in the termination of a protein with an increased number of amino acids. This results in a protein of abnormal length that plays an essential role in the construction of photoreceptors in the eye.

BLIND is an autosomal recessive disease. This means that only individuals with two mutant alleles of the gene exhibit symptoms of the disorder. Carriers with a single altered allele do not show symptoms of the disease however, they may pass the mutation to their offspring.

REFERENCES #

1. Michot P, Chahory S, Marete A, Grohs C, Dagios D, Donzel E, Aboukadiri A, Deloche MC, Allais-Bonnet A, Chambrial M, Barbey S, Genestout L, Boussaha M, Danchin-Burge C, Fritz S, Boichard D & Capitan A. (2016). A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genet Sel Evol 10;48(1):56.