57,48 47,50 IVA esclusa

H373

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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Specifiche

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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, Progressive Retinal Atrophy type 3, occurs in the Tibetan Spaniel and Tibetan Terrier. It is associated with by a recessive mutation to the gene FAM161A.

Caratteristiche cliniche

Affected dogs generally show the first signs of night blindness between three and seven years of age. After the initial signs present, the disease can progress rapidly, often leading to complete loss of vision within one year. Opthalmological examination can reveal thinning of the retinas.

Informazioni aggiuntive

The mutation in this test is a risk factor, and has not yet been established as the sole cause of the disorder.

Riferimenti

Pubmed ID: 24705771

Omia ID: 1918

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