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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.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

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.

Kliniske egenskaper

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.

Tilleggsinformasjon

Referanser

Pubmed ID: 34231238

Omia ID:

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