Affected gene: CCDC66
Transmission: Autosomal recessive
Mutation: CanFam3.1 20 g.33717704_33717705insT c.2262_c.2263insAOMIA link: 001521-9615
Breeds suitable for testing: Portuguese Water Dog
Symptoms:
Portuguese Water Dogs with early-onset progressive retinal atrophy in (EOPRA) show symptoms of visual deficits, including difficulty following moving objects and walking beside stationary objects. In the study by Murgiano et al, 2020 the disease was detected at about 2-3 years of age. A unique feature of EOPRA, seen in all affected dogs, is a distinct peripapillary ring of hyperreflectivity or peripapillary cone that evolves into a larger area of hyperreflectivity around the optic disc in advanced disease.References:
Murgiano, L., Becker, D., Spector, C., Carlin, K., Santana, E., Niggel, J.K., Jagannathan, V., Leeb, T., Pearce-Kelling, S., Aguirre, G.D., Miyadera, K. :
CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep 10:21162, 2020. Pubmed reference: 33273526. DOI: 10.1038/s41598-020-77980-5.
Early-Onset Progressive Retinal Atrophy (EOPRA-Portuguese Water Dogs) CCDC66 Gene
5 tests et + 55$ch.
Délais de traitement
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