DonateProgressive Retinal Atrophy rcd1a (PRA rcd1a)
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Progressive Retinal Atrophy rcd1a (PRA rcd1a)
OMIA
1669
Gene Name
PDE6B
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.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Sloughi
