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Early-Onset Progressive Retinal Atrophy

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Test Overview:

Use DNA tests to screen breeding stock for mutations causing EOPRA. Avoid mating two carriers to reduce incidence of affected dogs. Breed only clear animals with tested carriers if necessary, testing offspring before breeding. Maintain genetic diversity alongside disease control.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

PDE6B

Variant Detected:

c.2218-2223del; p.Phe740_Phe741del

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CCDC66 gene in dogs will reliably determine if a dog is a genetic carrier of early onset Progressive retinal Atrophy.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/33273526/ Murgiano, L., Becker, D., Spector, C. et al. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep 10, 21162 (2020). [PubMed: 33273526]

Associated Breed(s):

Portuguese Water Dog,

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