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Progressive Retinal Atrophy rcd1a (PRA rcd1a)

General

Disease Name
Progressive Retinal Atrophy rcd1a (PRA rcd1a)
Disease Name 2
Rod-Cone Dysplasia 1a (rcd1a)
OMIA
1669
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Mutation 2
c.2448_2449insTGAAGTCC
OMIM
613801
Disease Code
RCD1a
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Progressive Retinal Atrophy, rcd-1a
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
Inheritance
AR
Gene Name Text
phosphodiesterase 6B, cGMP-specific, rod, beta
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