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Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of PRA, known as Bardet-Biedl Syndrome Type 2 (BBS2-PRA), occurs in the Shetland Sheepdog. The variant is caused by a recessive mutation to the gene BBS2.

Caractéristiques cliniques

Affected dogs present in adulthood (approximately between the ages of 8 and 10 years) with a progressive decline in vision, starting with night vision and followed by daylight vision. Additionally, the disorder can cause unusual physical features such as an upturned nose, a wavy coat and dental abnormalities such as loose teeth.

Additional Information

Références

Pubmed ID: 34828377

Omia ID: 2484

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