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Progressive Retinal Atrophy - rcd1 (Irish Setter)

Progressive Retinal Atrophy - rcd1 (Irish Setter)

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Test Overview:

Rod-cone dysplasias are group of recessively inherited diseases with early onset where photoreceptors are disturbed in their normal development and never manage to develop properly. The progression of rod-cone dystrophy is caused by sequential degeneration of rod and cone photoreceptors. Retinal development is normal in PRA-RCD1 affected Sloughis until about two weeks of age, at which point photoreceptor development is arrested. Rod degeneration then occurs gradually from 1 to 5 months of age, followed by cone loss within 1 to 2 years. Early symptoms of PRA-RCD1 include night blindness and loss of peripheral vision due to progressive rod photoreceptors degeneration. This phase is followed by cone death and concomitant loss of central day vision. There is currently no cure for the PRA-RCD1 disease type.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Beta subunit of cGMP phosphodiesterase (PDE6B) gene on chromosome 3

Variant Detected:

a nonsense amber mutation at codon 807 (a G-->A transition converting TGG to TAG

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

Research Citation(s):

Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L. : Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203. Dekomien, G., Runte, M., Gödde, R., and Epplen, J.T. (2000). 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, 261–267. Kukekova, A.V., Goldstein, O., Johnson, J.L., Richardson, M.A., Pearce-Kelling, S.E., Swaroop, A., Friedman, J.S., Aguirre, G.D., and Acland, G.M. (2009). Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mammalian Genome 20, 109–123. Petit, L., Lhériteau, E., Weber, M., Le Meur, G., Deschamps, J.-Y., Provost, N., Mendes-Madeira, A., Libeau, L., Guihal, C., Colle, M.-A., et al. (2012). Restoration of Vision in the pde6?-deficient Dog, a Large Animal Model of Rod-cone Dystrophy. Mol Ther 20, 2019–2030.

Associated Breed(s):

Irish Setter,

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