57,48 47,50 IVA esclusa

H298

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 specific variant of the disorder, found in the Shih-Tzu, is caused by a recessive mutation to the gene JPH2.

Caratteristiche cliniche

Onset of clinical signs in affected dogs occurs in later adulthood, between the ages of 5 and 9 years. Symptoms include a hyper-reflective tapetum and loss of vision. Opthalmologic examination may reveal atrophy of the optic nerve and changes to the pigment of the retina.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 34231238

Omia ID:

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