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Progressive Retinal Atrophy crd3 (PRA crd3)

General

Disease Name
Progressive Retinal Atrophy crd3 (PRA crd3)
Disease Name 2
Cone-Rod Dystrophy 3 (crd3)
OMIA
1520
Gene Name
ADAM9
Mutation
c.1592_1881del
OMIM
612775
Disease Code
CRD3
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Cone Rod Dystrophy, PRA
Details
PRA crd3 is one of several cone rod dystrophies (crd) that have been recognised and is caused by a recessive mutation. All forms of crd are characterised by the initial loss of cones, the cells in the retina that are responsible for vision in bright light/day light, followed by the degeneration of rods, the retinal cells that operate during night vision. Clinical effects of crd3 are usually not evident until two years of age, but in some instances may be delayed until aged seven or older.
Details 2
A variable and, at times, very late onset of gPRA caused by a crd form, is unique as a relatively mild retinal degeneration at advanced age (2-7 years, sometimes later).
Published
Kropatsch, R., Petrasch-Parwez, E., Seelow, D., Schlichting, A., Gerding, WM., Akkad, DA., Epplen, JT., Dekomien, G. : Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes 24:357-63, 2010. Pubmed reference: 20691256. DOI: 10.1016/j.mcp.2010.07.007.
Published 2
Goldstein, O., Mezey, JG., Boyko, AR., Gao, C., Wang, W., Bustamante, CD., Anguish, LJ., Jordan, JA., Pearce-Kelling, SE., Aguirre, GD., Acland, GM. : An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis 16:1549-69, 2010. Pubmed reference: 20806078.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
ADAM metallopeptidase domain 9
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