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H878

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 early-onset variant of PRA (eo-PRA), found in the Spanish Water Dog, is caused by a recessive mutation to the gene PDE6B.

Related disorders are also found in the American Staffordshire Terrier, Irish Setter and Sloughi.

Caractéristiques cliniques

This form of PRA has an early onset, with affected dogs beginning to present with vision problems between the age of one and a half years. By the age of four or five years, the loss of vision is significant. Ophthalmological examination will reveal vascular attenuation and tapetal hyperreflectivity.

Additional Information

Note that this disorder is not the only possible cause of PRA in the Spanish Water Dog; another variant (PRCD-PRA) exists that is caused by a mutation to the gene PRCD.

Références

Pubmed ID: 32639685

Omia ID: 2282

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