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H390

Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss.

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Caractéristiques

Breeds

Gene

Chromosome

13

Mutation

c.1752_1755delAACT

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Also known as

PRA, PRA2

Informations générales

Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss. This variant of PRA is specific for the Shetland Sheepdog and is caused by a recessive mutation in the cyclic nucleotide gated channel alpha 1 (CNGA1) gene.

Caractéristiques cliniques

Clinical signs typically begin with night blindness and reduced peripheral vision, which worsen over time and may lead to complete blindness. The age of onset can vary widely. In one study, affected dogs were diagnosed between 2 and 11 years of age, with an average onset around 5 years.

Additional Information

PRA is not the only inherited eye condition seen in Shetland Sheepdogs. Collie Eye Anomaly (CEA) is another retinal disorder known to occur in the breed.

Références

Pubmed ID: 26202106

Year published: 2015

Omia ID: 1977

Omia variant ID: 547

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