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Progressive Retinal Atrophy rcd1a (PRA rcd1a)

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Progressive Retinal Atrophy rcd1a (PRA rcd1a)
Mutation
c.2447insTGAAGTCC
Mutation 2
c.2448_2449insTGAAGTCC
Test Type
Genetic Disease/Disorder
Details
PRA rcd1a belongs to a family of rod-cone dysplasia diseases, in this case, a late-onset form. First noticeable signs of vision loss usually evident at 2 to 3 years of age. The inheritance pattern of this disease is autosomal recessive.
Details 2
PRA rcd1a belongs to a family of rod-cone dysplasia diseases, in this case, a late-onset form. First noticeable signs of vision loss usually evident at 2 to 3 years of age. The mutation associated with the rcd1a-PRA disease has been identified in the PDE6B gene (1).The inheritance pattern of this disease is autosomal recessive.
Published
Dekomien, G., Runte, M., Gödde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000. Pubmed reference: 11124530.
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