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Progressive Retinal Atrophy rcd4 (PRA rcd4)

General

Disease Name
Progressive Retinal Atrophy rcd4 (PRA rcd4)
Disease Name 2
Rod-Cone Dysplasia 4 (rcd4)
OMIA
1575
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
OMIM
613428
Disease Code
RCD4
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Progressive Retinal Atrophy, rcd-4
Details
PRA rcd4 is one of a number of late-onset PRAs (sometimes called LOPRA) Unlike other forms of PRA, such as rcd1, the age at which dogs with the rcd4 mutation develop PRA varies with reports as young as 2-3 up to 10-11 yo. The most common age of diagnosis and possible onset seems to be around 9 years. It is unknown if this is due to delays in clinical diagnosis, a manifestation of the disease, or some other variable. Owners and breeders should be aware that some breeds, such as the Irish Setter, have at least 3 identified different forms of PRA mutations, and that any tests for rcd4 identify the risks for that specific mutation only.
Details 2
PRA rcd4 is one of a number of late-onset PRAs (sometimes called LOPRA) Unlike other forms of PRA, such as rcd1, the age at which dogs with the rcd4 mutation develop PRA varies with reports as young as 2-3 up to 10-11 yo. It is unknown if this is due to delays in clinical diagnosis, or some other variable. Owners and breeders should be aware that some breeds, such as the Irish Setter, have at least 3 identified different forms of PRA mutations, and that any tests for rcd4 identify the risks for that specific mutation only.
Published
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255. DOI: 10.1111/j.1365-2052.2012.02379.x.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
chromosome 17 open reading frame, human C2orf71
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