Download Golden Retriever Progressive Retinal Atrophy 1

OCULARDISORDERS
GoldenRetrieverProgressiveRetinal
Atrophy1,(GR_PRA1)
Inbrief
Progressive retinal atrophy (PRA) is a group of inherited diseases
affecting dogs of various breeds. PRA is characterised by retinal
degeneration and progressive loss of vision leading eventually to
blindness. PRA is known to affect over 100 breeds. Causative gene
mutations have been identified in several breeds, but some of the
mutationsarestillunidentified.MutationsGR_PRA1andGR_PRA2have
beenidentifiedinaffectedinGoldenRetrievers.Thedisorderisinherited
inanautosomalrecessivemanner.
Diseaseseverity
Moderate
Clinicalsigns
Lossofvision
Blindness
ModeofInheritance
AutosomalRecessive
Clinicaloverview
GR_PRA1andGR_PRA2arelate-onsetandslowlyprogressingformsof
PRA. The first clinical sign observed is loss of vision in dim light (night
blindness) caused by degeneration of rod photoreceptor cells. PRA
gradually progresses to total blindness as the cone photoreceptor cells
of the retina also degenerate. The age of onset varies considerably
among individuals, but usually the first signs are observed at 6-7 years
of age. GR_PRA 1 and GR_PRA 2 are very slowly progressing
conditions.
Resultsofthegenetic
testarereportedas
follows:
Clear
Carrier
Atrisk
Mutation(s)foundin:
References
Onlinedatabase
Online
Mendelian
Inheritance
in
Animals,
OMIA
(http://omia.angis.org.au/). Faculty of Veterinary Science, University of
Sydney.
Scientificarticles
Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar
Å, Truvé K, Hübinette L, Lindblad-Toh K, Bergström T, Mellersh CS.A
frameshift mutation in golden retriever dogs with progressive retinal
atrophy endorses SLC4A3 as a candidate gene for human retinal
degenerations.PLoSOne6:e21452,2011.
Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS. A novel
mutation in TTC8 is associated with progressive retinal atrophy in the
goldenretriever.CanineGeneticsandEpidemiology1:4,2014.
GoldenLabradorRetriever
GoldenRetriever
Mixedbreed