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Progressive Retinal Atrophy (rcd1-PRA) – Irish Setter

Code: H768

74,72 €

Sample details

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Short description

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.

General information

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 the disease, known as Rod-Cone Dysplasia 1 (rcd1), occurs in the Irish Setter. It is caused by a recessive mutation to the gene PDE6B.

Specifications

Breeds

Irish Setter
Gene

PDE6B
Chromosome

3
Mutation

c.2421G>A
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

rcd1; PRA; PRA-rcd1

Clinical features

Affected puppies start developing loss of vision in dim light within the first weeks of life, which progressively worsens as the retinas deteriorate. Total blindness by the age of 1 year is likely.

References

Pubmed ID: 8387203

Year published: 1993

Omia ID: 882

Omia variant ID:

Turnaround information

  • 15 working days